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Article

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

American journal of medical genetics. Part A - 1 May 2018

Schirwani Schaida, Wakeling Emma, Smith Kath, Balasubramanian Meena

Abstract excerpt

Pathogenic variants in Zinc Finger DHHC-Type Containing 9 (ZDHHC9) gene have been identified as the cause of X-linked intellectual disability (XLID) in a small number of families. There are a total of 11 reported pathogenic variants in ZDHHC9 in the literature. The majority of reported variants are familial point mutations. There is one report of XLID associated with a de novo mutation in ZDHHC9, and one family...

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Source

Identifiers

PMID: 29681091
DOI: 10.1002/ajmg.a.38683

Genes

ZDHHC9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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