一名患有2q22 - q23缺失（该缺失包含ZFHX1B基因）的患者出现了巨脑回和小脑发育不全。 - Suppr

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超能文献

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.

作者信息

Silengo Margherita, Ferrero Giovanni Battista, Wakamatsu Nobuaki

机构信息

Dipartimento di Scienze Pediatriche dell'Universita'di Torino, Torino, Italy.

Aichi Human Service Center, Department of Genetics, Aichi, Japan.

出版信息

Am J Med Genet A. 2004 May 15;127A(1):109. doi: 10.1002/ajmg.a.20607.

DOI:10.1002/ajmg.a.20607

PMID:15103730

Abstract

摘要

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