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- [21] PORCN Mutations in Focal Dermal Hypoplasia: Coping with LethalityHUMAN MUTATION, 2009, 30 (05) : E618 - E628Bornholdt, Dorothea论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyOeffner, Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyKoenig, Arne论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Hautkrankheiten, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyHapple, Rudolf论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Hautkrankheiten, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyAlanay, Yasemin论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat, Ankara, Turkey Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyAscherman, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Surg, New York, NY USA Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyBenke, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Joe Dimaggio Childrens Hosp, Div Pediat Genet, Hollywood, FL USA Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germanydel Carmen Boente, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Nino Jesus, Dept Dermatol, San Miguel De Tucuman, Tucuman, Argentina Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germanyvan der Burgt, Ineke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyChassaing, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Hop Purpan, Gen Med Serv, Toulouse, France Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyEllis, Ian论文数: 0 引用数: 0 h-index: 0机构: Alder Hey Childrens Hosp, Dept Clin Genet, Liverpool L12 2AP, Merseyside, England Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyFrancisco, Christina Raissa I.论文数: 0 引用数: 0 h-index: 0机构: Univ Philippines, Philippine Gen Hosp, Dermatol Sect, Manila, Philippines Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyDella Giovanna, Patricia论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Alejandro Posadas, Dept Dermatol, Buenos Aires, DF, Argentina Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyHamel, Ben论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyHas, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Hautklin Freiburg, Freiburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyHeinelt, Kaatje论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany论文数: 引用数: h-index:机构:Kastrup, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Hautarztpraxis Bielefeld, Bielefeld, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany论文数: 引用数: h-index:机构:Lohrisch, Ingo论文数: 0 引用数: 0 h-index: 0机构: Hautarztpraxis Kassel, Kassel, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyMarcelis, Carlo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyMehraein, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Inst Humangenet, Munich, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyNicolas, Marie Eleanore O.论文数: 0 引用数: 0 h-index: 0机构: Univ Philippines, Philippine Gen Hosp, Dermatol Sect, Manila, Philippines Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyPagliarini, Dana论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyParadisi, Mauro论文数: 0 引用数: 0 h-index: 0机构: Ist Dermopat Immacolata, Div Pediat Dermatol, Rome, Italy Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyPatrizi, Annalisa论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Med Interna, Sez Dermatol, I-40126 Bologna, Italy Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany论文数: 引用数: h-index:机构:Piza-Katzer, Hildegunde论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Univ Klin Plast & Wiederherstellungschirurg, Innsbruck, Austria Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyPrager, Bettina论文数: 0 引用数: 0 h-index: 0机构: Mol Genet Lab Dresden, Dresden, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyPrescott, Katrina论文数: 0 引用数: 0 h-index: 0机构: Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyStrien, Juliane论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyUtine, G. Eda论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat, Ankara, Turkey Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyZeller, Marc S.论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, GermanyGrzeschik, Karl-Heinz论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Zentrum Humangenet, D-35037 Marburg, Germany
- [22] Focal Dermal Hypoplasia with a De novo Mutation p.E300*of PORCN Gene in a Male InfantINDIAN JOURNAL OF DERMATOLOGY, 2016, 61 (06) : 673 - 673Rao, Swathi Sunil论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Deralakatte Mangalore, 575 018, KarnatakaShenoy, Rathika D.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Deralakatte Mangalore, 575 018, KarnatakaSalian, Smrithi论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Deralakatte Mangalore, 575 018, KarnatakaGirisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Deralakatte Mangalore, 575 018, Karnataka
- [23] Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutationJOURNAL OF GENE MEDICINE, 2020, 22 (05):Martinez-Saucedo, Mirna论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoOrnelas-Fuentes, Carolina论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Dept Med Genet & Expt Teratogenesis, Mexico City, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoDedden, Mark论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoSanchez-Urbina, Rocio论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Lab Dev Biol & Expt Teratogenesis, Mexico City, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoDiaz-Garcia, Hector论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Lab Dev Biol & Expt Teratogenesis, Mexico City, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoAquino-Jarquin, Guillermo论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoMoreno-Salgado, Rodrigo论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Dept Med Genet & Expt Teratogenesis, Mexico City, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, MexicoGranados-Riveron, Javier T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, Mexico Hosp Infantil Mexico Dr Federico Gomez, Lab Res Genom Genet & Bioinformat, Dr Marquez 162, Mexico City 06720, DF, Mexico
- [24] A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature ReviewHORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 459 - 459Wu, Di论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaHu, Xuyun论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guanxi Zhuang Autonomo, Genet & Metab Ctr Lab, Nanning, Guangxi, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Shanghai, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaLi, Xiaoqiao论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaWei, Liya论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaSu, Chang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaChen, Jiajia论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaQin, Miao论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaGong, Chunxiu论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R ChinaShen, Yiping论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guanxi Zhuang Autonomo, Genet & Metab Ctr Lab, Nanning, Guangxi, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Shanghai, Peoples R China Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet & Metablism, Beijing, Peoples R China
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- [28] Unilateral focal dermal hypoplasia.ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2002, 129 (10): : 1161 - 1163Denis-Thely, L论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Dermatol, St Etienne, FranceCordier, MP论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Dermatol, St Etienne, FranceCambazard, F论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Dermatol, St Etienne, FranceMisery, L论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Dermatol, St Etienne, France
- [29] A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasiaMOLECULAR GENETICS AND METABOLISM REPORTS, 2017, 12 : 57 - 61Madan, Simran论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Interdept Program Translat Biol & Mol Med, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALiu, Wei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALu, James T.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Struct & Computat Biol & Mol Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASutton, V. Reid论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAToth, Bryant论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Res Ctr, Oakland, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJoe, Priscilla论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Res Ctr, Oakland, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWaterson, John R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Res Ctr, Oakland, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVan den Veyver, Ignatia B.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Interdept Program Translat Biol & Mol Med, Houston, TX 77030 USA Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALammer, Edward J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Res Ctr, Oakland, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACampeau, Philippe M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, Brendan H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Interdept Program Translat Biol & Mol Med, Houston, TX 77030 USA Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [30] Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaNature Genetics, 2007, 39 : 833 - 835Karl-Heinz Grzeschik论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsDorothea Bornholdt论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsFrank Oeffner论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsArne König论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsMaría del Carmen Boente论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsHerbert Enders论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsBarbara Fritz论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsMichael Hertl论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsUte Grasshoff论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsKatja Höfling论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsVinzenz Oji论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsMauro Paradisi论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsChristian Schuchardt论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsZsuzsanna Szalai论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsGianluca Tadini论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsHeiko Traupe论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human GeneticsRudolf Happle论文数: 0 引用数: 0 h-index: 0机构: University of Marburg,Department of Human Genetics