STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy

被引:3
|
作者
Anand, Vaishakh [1 ,2 ]
Aggarwal, Bhawana [3 ]
Jauhari, Prashant [2 ]
Kumar, Manoj [4 ]
Gupta, Neerja [3 ]
Kumar, Atin [5 ]
Gulati, Sheffali [2 ]
Kabra, Madhulika [3 ]
机构
[1] Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, India
[2] All India Inst Med Sci, Child Neurol Div, Dept Pediat, New Delhi, India
[3] All India Inst Med Sci, Div Med Genet, Dept Pediat, New Delhi, India
[4] All India Inst Med Sci, Dept Biophys, New Delhi, India
[5] All India Inst Med Sci, Dept Radiodiag, New Delhi, India
关键词
BROTHERS; AMSH;
D O I
10.1684/epd.2021.1411
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:602 / 605
页数:4
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