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Article

[Follow-up and genetic study of 43 Chinese children with type Ⅰ Alexander disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jul 2017

Ban T T, Wu Y, Zhang Z B, Zang L L, Wang J M, Jiang Y W

Abstract excerpt

Objective: To identify the clinical and genetic characteristics in 43 Chinese children diagnosed with type Ⅰ Alexander disease (AxD). Method: Forty-three type Ⅰ AxD cases identified by glial fibrillary acidic protein (GFAP) gene mutations in Peking University First Hospital from 2005 to 2016 were followed up. The data of medical history, physical examination and magnetic resonance imaging (MRI) were collected....

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Identifiers

PMID: 28728258
DOI: 10.3760/cma.j.issn.0578-1310.2017.07.007

Genes

GFAP

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