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
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页码：969 / 970
页数：2
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