Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

被引：2
|
作者：
Siddaiahgari, Sirisha Rani [1 ]
Makadia, Darshak [2 ]
Shah, Nikit [2 ]
Devi, Radha Rama [3 ,4 ]
Lingappa, Lokesh [5 ]
机构：
[1] Rainbow Childrens Hosp & Perinatal Ctr, Div Pediat Hematol Oncol, Hyderabad 500034, Andhra Pradesh, India
[2] Rainbow Childrens Hosp & Perinatal Ctr, Div Gen Pediat, Hyderabad 500034, Andhra Pradesh, India
[3] Rainbow Childrens Hosp & Perinatal Ctr, Div Pediat Genet, Hyderabad 500034, Andhra Pradesh, India
[4] Rainbow Childrens Hosp & Perinatal Ctr, Metab Unit, Hyderabad 500034, Andhra Pradesh, India
[5] Rainbow Childrens Hosp & Perinatal Ctr, Div Pediat Neurol & Neurorehabil, Hyderabad 500034, Andhra Pradesh, India
来源：
INDIAN JOURNAL OF PEDIATRICS | 2014年 / 81卷 / 09期
关键词：
Hematopoietic Stem Cell Transplantation; Optic Atrophy; Chiari Malformation; Neonatal Seizure; Arnold Chiari Malformation;
D O I：
10.1007/s12098-013-1250-1
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
下载
收藏
页码：969 / 970
页数：2
相关论文
共 50 条
  • [21] A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
    Wang, Xia
    Wang, Yingcan
    Xu, Ting
    Fan, Yanjie
    Ding, Yifeng
    Qian, Jihong
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [22] Autosomal recessive osteopetrosis in Chuvashiya
    Ginter, EK
    Kirillov, AG
    Rogaev, EI
    RUSSIAN JOURNAL OF GENETICS, 2001, 37 (08) : 964 - 967
  • [23] Autosomal Recessive Osteopetrosis in Chuvashiya
    E. K. Ginter
    A. G. Kirillov
    E. I. Rogaev
    Russian Journal of Genetics, 2001, 37 : 964 - 967
  • [24] A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis
    Nesrin Besbas
    Markus Draaken
    Michael Ludwig
    Ozgur Deren
    Diclehan Orhan
    Yelda Bilginer
    Fatih Ozaltin
    European Journal of Pediatrics, 2009, 168 : 1449 - 1454
  • [25] A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis
    Besbas, Nesrin
    Draaken, Markus
    Ludwig, Michael
    Deren, Ozgur
    Orhan, Diclehan
    Bilginer, Yelda
    Ozaltin, Fatih
    EUROPEAN JOURNAL OF PEDIATRICS, 2009, 168 (12) : 1449 - 1454
  • [26] A case of autosomal recessive infantile osteopetrosis due to mutation in TCIRG1 presenting with multiple congenital anomalies.
    Conway, R
    Lachman, R
    Hurvitz, C
    Falk, R
    JOURNAL OF INVESTIGATIVE MEDICINE, 2006, 54 (01) : S99 - S99
  • [27] Long-Term Survival in Infantile Malignant Autosomal Recessive Osteopetrosis Secondary to Homozygous p.Arg526Gln Mutation in CLCN7
    Kantaputra, Piranit Nik
    Thawanaphong, Saranya
    Issarangporn, Witchapong
    Klangsinsirikul, Phennapha
    Ohazama, Atsushi
    Sharpe, Paul
    Supanchart, Chayarop
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 909 - 916
  • [28] A novel homozygous mutation of TCIRG1 gene in a case of infantile malignant osteopetrosis
    Veleva, Tsvetina
    Avdjieva-Tzavella, Daniela
    Sredkova-Ruskova, Maria
    Delchev, Trayan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 124 - 124
  • [29] Infantile Malignant Osteopetrosis
    Nour, Munier
    Ward, Leanne M.
    JOURNAL OF PEDIATRICS, 2013, 163 (04): : 1230 - +
  • [30] Malignant Infantile osteopetrosis
    Vomero, A.
    Tapie, A.
    Arroyo, C.
    Raggio, V
    Peluffo, G.
    Dufort, G.
    REVISTA CHILENA DE PEDIATRIA-CHILE, 2019, 90 (04): : 443 - 447
12345