常染色体隐性原发性小头畸形（MCPH）。
Autosomal recessive primary microcephalies (MCPH).
作者信息
Kaindl Angela M
机构信息
Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Germany.
出版信息
Eur J Paediatr Neurol. 2014 Jul;18(4):547-8. doi: 10.1016/j.ejpn.2014.03.010. Epub 2014 Apr 16.
PMID:24780602
Abstract
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous disease characterized by a pronounced reduction in volume of otherwise architectonical normal brains and intellectual deficit. Here, we summarize the genetic causes of MCPH types 1-12 known to date.
摘要
常染色体隐性原发性小头畸形（MCPH）是一种遗传异质性疾病，其特征是在其他方面结构正常的大脑体积显著减小以及智力缺陷。在此，我们总结了迄今已知的1型至12型MCPH的遗传病因。
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