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Article

Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

American journal of medical genetics. Part A - 1 May 2022

Morales Jose Andres, Valenzuela Irene, Cuscó Ivon, Cogné Benjamin, Isidor Bertrand, Matalon Dena R, Gomez-Ospina Natalia

Abstract excerpt

WAC-related intellectual disability (ID) is a rare genetic condition characterized by a spectrum of neurodevelopmental disorders of varying severity, including global developmental delay (GDD), ID, and autism spectrum disorder. Here, we describe five affected individuals, age range 9-20 years, and provide proof of pathogenicity of a novel splicing variant. All individuals presented with GDD, some degree of ID,...

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Identifiers

PMID: 35018708
DOI: 10.1002/ajmg.a.62648

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