Pontocerebellar hypoplasia
Pontocerebellar hypoplasia
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DOI：
10.1002/ajmg.c.31403
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发表时间：
2014-06-01
影响因子：
3.1
通讯作者：
Zerres, Klaus
中科院分区：
文献类型：
--
作者：
Rudnik-Schoeneborn, Sabine;Barth, Peter G.;Zerres, Klaus
脑桥小脑发育不全（PCH）是一组临床和遗传异质性的常染色体reckoning遗传性神经发育障碍。随着在不同亚型中鉴定出的基因数量的迅速增加，临床谱已经扩大到完全不同的神经学表型。在这篇综述中，我们将讨论目前已知的PCH亚型的临床表现，神经放射学，病理解剖学和遗传学研究结果。(c)2014 Wiley Periodicals，Inc.
Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes. In this review we will address the clinical picture, neuroradiological, pathoanatomic, and genetic findings in the currently known PCH subtypes. (c) 2014 Wiley Periodicals, Inc.