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Article

Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

European journal of medical genetics - 1 Jan 2021

Dontaine Pauline, Kottos Elisa, Dassonville Martine, Balasel Ovidiu, Catros Véronique, Soblet Julie, Perlot Pascale, Vilain Catheline

Abstract excerpt

Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal half-brothers who both presented with severe neurodevelopmental delay, seizures, hearing loss,...

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Identifiers

PMID: 33186760
DOI: 10.1016/j.ejmg.2020.104097

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