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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Detalles Bibliográficos
Autores principales: Takagi, Masaki, Yagi, Hiroko, Fukuzawa, Ryuji, Narumi, Satoshi, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389957/
https://www.ncbi.nlm.nih.gov/pubmed/28446958
http://dx.doi.org/10.1038/hgv.2017.12

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