Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disor...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Takagi, Masaki, Yagi, Hiroko, Fukuzawa, Ryuji, Narumi, Satoshi, Hasegawa, Tomonobu
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389957/
https://ncbi.nlm.nih.gov/pubmed/28446958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.12
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