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Article

ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.

American journal of medical genetics. Part A - 1 Feb 2023

Ramos Anna Karolina Silva, Caldas-Rosa Erica Carine Campos, Ferreira Bárbara Merfort, Versiani Beatriz Ribeiro, Moretti Patrícia Natalia, de Oliveira Silviene Fabiana, Pic-Taylor Aline, Mazzeu Juliana F

Abstract excerpt

The ZDHHC9 gene encodes the Zinc Finger DHHC-Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as the cause of Raymond-type X-linked intellectual disability with only 16 families described in the literature. This study reviews molecular and clinical data from previously reported patients and reports the case of a 13-year-old patient with a splicing...

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PMID: 36416207
DOI: 10.1002/ajmg.a.63052

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