HAX1 Mutations causing SCN and Neurological Disease Lead to Microstructural Abnormalities Revealed by Quantitative MRI

Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessive severe congenital neutropenia. Some of these patients display neurological abnormalities including developmental delay, cognitive impairment and/or epilepsy. Recent genotype-phenotype studies have s...

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Bibliografski detalji
Glavni autori: Boztug, Kaan, Ding, Xiao-Qi, Hartmann, Hans, Ziesenitz, Lena, Schäffer, Alejandro A., Diestelhorst, Jana, Pfeifer, Dietmar, Appaswamy, Giridharan, Kehbel, Sonja, Simon, Thorsten, Jefri, Abdullah Al, Lanfermann, Heinrich, Klein, Christoph
Format: Artigo
Jezik:Inglês
Izdano: 2010
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3164786/
https://ncbi.nlm.nih.gov/pubmed/21108402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33748
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