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Article

Retinal interneuron survival requires non-cell-autonomous Atrx activity.

Human molecular genetics - 1 Nov 2016

Lagali Pamela S, Medina Chantal F, Zhao Brandon Y H, Yan Keqin, Baker Adam N, Coupland Stuart G, Tsilfidis Catherine, Wallace Valerie A, Picketts David J

Abstract excerpt

ATRX is a chromatin remodeling protein that is mutated in several intellectual disability disorders including alpha-thalassemia/mental retardation, X-linked (ATR-X) syndrome. We previously reported the prevalence of ophthalmological defects in ATR-X syndrome patients, and accordingly we find morphological and functional visual abnormalities in a mouse model harboring a mutation occurring in ATR-X patients. The...

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Identifiers

PMID: 28173139
DOI: 10.1093/hmg/ddw306

Genes

ATR
ATRX

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