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Article

ATR-X syndrome: genetics, clinical spectrum, and management.

Human genetics - 1 Dec 2021

León Nayla Y, Harley Vincent R

Abstract excerpt

ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. Less common are heart defects, eye anomalies, renal abnormalities, and gastrointestinal dysfunction. ATR-X syndrome is caused by germline variants in the ATRX...

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Identifiers

PMID: 34524523
DOI: 10.1007/s00439-021-02361-5

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