ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization

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...

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Vydané v:	American journal of medical genetics. Part A Ročník 191; číslo 2; s. 599 - 604
Hlavní autori:	Ramos, Anna Karolina Silva, Caldas‐Rosa, Erica Carine Campos, Ferreira, Bárbara Merfort, Versiani, Beatriz Ribeiro, Moretti, Patrícia Natalia, Oliveira, Silviene Fabiana, Pic‐Taylor, Aline, Mazzeu, Juliana F.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Hoboken, USA John Wiley & Sons, Inc 01.02.2023 Wiley Subscription Services, Inc
Predmet:	Adolescent exome sequencing Exons Exons - genetics Frameshift Mutation Genes, X-Linked - genetics Humans Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Intellectual Disability - metabolism Mutation Palmitoyltransferase Phenotype X‐linked intellectual disability ZDHHC9 Zinc finger proteins ZDHHC9 exome sequencing X-linked intellectual disability
ISSN:	1552-4825, 1552-4833, 1552-4833
On-line prístup:	Získať plný text
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