Article
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
American journal of medical genetics. Part A - 1 Dec 2010
Boztug Kaan, Ding Xiao-Qi, Hartmann Hans, Ziesenitz Lena, Schäffer Alejandro A, Diestelhorst Jana, Pfeifer Dietmar, Appaswamy Giridharan, Kehbel Sonja, Simon Thorsten, Al Jefri Abdullah, Lanfermann Heinrich, Klein Christoph
Abstract excerpt
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessive severe congenital neutropenia (SCN). Some of these patients have neurological abnormalities including developmental delay, cognitive impairment, and/or epilepsy. Recent genotype-phenotype studies have shown that mutations in HAX1 affecting transcripts A (NM_006118.3) and B (NM_001018837.1) cause the phenotype of...
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