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- [31] Case report: A de novo variant of CRMP1 in an individual with a neurodevelopmental disorderFRONTIERS IN NEUROSCIENCE, 2024, 18Liu, Juan论文数: 0 引用数: 0 h-index: 0机构: Mianyang Cent Hosp, Dept Pediat, Mianyang, Sichuan, Peoples R China Chengdu Med Coll, Chengdu, Sichuan, Peoples R China Mianyang Cent Hosp, Dept Pediat, Mianyang, Sichuan, Peoples R ChinaWang, Qi论文数: 0 引用数: 0 h-index: 0机构: Mianyang Cent Hosp, Dept Pediat, Mianyang, Sichuan, Peoples R China Mianyang Cent Hosp, Dept Pediat, Mianyang, Sichuan, Peoples R ChinaChen, Jia论文数: 0 引用数: 0 h-index: 0机构: Mianyang Cent Hosp, Dept Pediat, Mianyang, Sichuan, Peoples R China Mianyang Cent Hosp, Dept Pediat, Mianyang, Sichuan, Peoples R China
- [32] Case 2: Persistent skin discolouration in a child with autism spectrum disorderPAEDIATRICS & CHILD HEALTH, 2016, 21 (02)Smile, Sharon论文数: 0 引用数: 0 h-index: 0机构: Holland Bloorview Kids Rehabil Hosp, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada Holland Bloorview Kids Rehabil Hosp, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada
- [33] Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsyFRONTIERS IN GENETICS, 2023, 14Hu, Yan论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaHuang, Mingwei论文数: 0 引用数: 0 h-index: 0机构: Aegicare Shenzhen Technol Co Ltd, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaWen, Jialun论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaGao, Jian论文数: 0 引用数: 0 h-index: 0机构: Aegicare Shenzhen Technol Co Ltd, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaLong, Weiwei论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaShen, Yansheng论文数: 0 引用数: 0 h-index: 0机构: Aegicare Shenzhen Technol Co Ltd, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaZeng, Qi论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaChen, Yan论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaZhang, Tian论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaLiao, Jianxiang论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaLiu, Qiuli论文数: 0 引用数: 0 h-index: 0机构: Aegicare Shenzhen Technol Co Ltd, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaLi, Nannan论文数: 0 引用数: 0 h-index: 0机构: Aegicare Shenzhen Technol Co Ltd, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R ChinaLin, Sufang论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China
- [34] Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndromeFRONTIERS IN PEDIATRICS, 2023, 11Yang, Qi论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R ChinaGong, Di论文数: 0 引用数: 0 h-index: 0机构: Guangxi Minzu Univ, Dept Sch Infirm, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R ChinaYi, Shang论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R ChinaLuo, Jingsi论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R ChinaZhang, Qinle论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab Cent Lab, Nanning, Peoples R China Guangxi Key Lab Birth Defects & Stem Cell Biobank, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preven, Nanning, Peoples R China
- [35] A case of drug-resistant epilepsy and autism with de novo SLC6A8 gene variantSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2023, 113 : 16 - 18Horvat, David论文数: 0 引用数: 0 h-index: 0机构: Walter Reed Natl Mil Med Ctr, Dept Neurol, 8901 Wisconsin Ave, Bethesda, MD 20889 USA Walter Reed Natl Mil Med Ctr, Dept Neurol, 8901 Wisconsin Ave, Bethesda, MD 20889 USAKaminski, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, 1000 Hilltop Cir, Baltimore, MD 21250 USA Walter Reed Natl Mil Med Ctr, Dept Neurol, 8901 Wisconsin Ave, Bethesda, MD 20889 USAMa, Yitao论文数: 0 引用数: 0 h-index: 0机构: Walter Reed Natl Mil Med Ctr, Dept Neurol, 8901 Wisconsin Ave, Bethesda, MD 20889 USA Walter Reed Natl Mil Med Ctr, Dept Neurol, 8901 Wisconsin Ave, Bethesda, MD 20889 USA
- [36] Heterozygous de novo variants inCSNK1G1are associated with syndromic developmental delay and autism spectrum disorderCLINICAL GENETICS, 2020, 98 (06) : 571 - 576Gold, Nina B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USALi, Dong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAChassevent, Anna论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAKaiser, Frank J.论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAParenti, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, Neuherberg, Germany Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USARamos, Feliciano J.论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, IIS Aragon, Sch Med, Hosp Lozano Blesa,Unit Clin Genet & Funct Genom,D, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Sch Med, Hosp Lozano Blesa,Dept Paediat, Zaragoza, Spain CIBERER GCV02, Zaragoza, Spain Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAPuisac, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, IIS Aragon, Sch Med, Hosp Lozano Blesa,Unit Clin Genet & Funct Genom,D, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Sch Med, Hosp Lozano Blesa,Dept Paediat, Zaragoza, Spain CIBERER GCV02, Zaragoza, Spain Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAPie, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, IIS Aragon, Sch Med, Hosp Lozano Blesa,Unit Clin Genet & Funct Genom,D, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Sch Med, Hosp Lozano Blesa,Dept Paediat, Zaragoza, Spain CIBERER GCV02, Zaragoza, Spain Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USAMcWalter, Kirsty论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USASacoto, Maria J. Guillen论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USACui, Hong论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USASaadeh-Haddad, Reem论文数: 0 引用数: 0 h-index: 0机构: MedStar Georgetown Univ Hosp, Div Genet, Dept Pediat, Washington, DC USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Rodan, Lance论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Div Neurol, Boston, MA 02115 USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USABlair, Edward论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Oxford Ctr Genom Med, Nuffield Orthopaed Ctr, ACE Bldg, Oxford, England Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USABhoj, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Perelman Sch Med, Philadelphia, PA 19104 USA Harvard Med Sch, Div Med Genet & Metab, Massachusetts Gen Hosp Children, Boston, MA 02115 USA
- [37] Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsyMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (07):Jay, Kristy论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USA Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USAMitra, Amit论文数: 0 引用数: 0 h-index: 0机构: Auburn Univ, Harrison Sch Pharm, Dept Drug Discovery & Dev, Auburn, AL 36849 USA Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USAHarding, Taylor论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USA Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USAMatthes, David论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota Twin Cities, Dept Biol Teaching & Learning, Coll Biol Sci, Minneapolis, MN USA Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USAVan Ness, Brian论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USA Univ Minnesota Twin Cities, Dept Genet Cell Biol & Dev, Coll Biol Sci, Minneapolis, MN USA
- [38] CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case ReportGENES, 2023, 14 (06)Tolmacheva, Ekaterina R.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaShubina, Jekaterina论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaKochetkova, Taisiya O.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaUshakova, Lubov' V.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaBokerija, Ekaterina L.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaVasiliev, Grigory S.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaMikhaylovskaya, Galina V.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaAtapina, Ekaterina E.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaZaretskaya, Nadezhda V.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaSukhikh, Gennady T.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaRebrikov, Denis V.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, RussiaTrofimov, Dmitriy Yu.论文数: 0 引用数: 0 h-index: 0机构: Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia Kulakov Natl Med Res Ctr Obstet Gynecol & Perinato, Moscow 117198, Russia
- [39] Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case reportBMC Pediatrics, 22Qianyun Cai论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of PediatricsZhongjie Zhou论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of PediatricsRong Luo论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of PediatricsTao Yu论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of PediatricsDengfeng Li论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of PediatricsFan Yang论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of PediatricsZuozhen Yang论文数: 0 引用数: 0 h-index: 0机构: West China Second University Hospital,Department of Pediatrics
- [40] Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case reportBMC PEDIATRICS, 2022, 22 (01)Cai, Qianyun论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Minist Educ, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaZhou, Zhongjie论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Orthoped, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaLuo, Rong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Minist Educ, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaYu, Tao论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Minist Educ, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaLi, Dengfeng论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Minist Educ, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaYang, Fan论文数: 0 引用数: 0 h-index: 0机构: Cipher Gene LLC, Beijing 100089, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaYang, Zuozhen论文数: 0 引用数: 0 h-index: 0机构: Cipher Gene LLC, Beijing 100089, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China