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Article

X-linked intellectual disability: Phenotypic expression in carrier females.

Clinical genetics - 1 Mar 2020

Ziats Catherine A, Schwartz Charles E, Gecz Jozef, Shaw Marie, Field Michael J, Stevenson Roger E, Neri Giovanni

Abstract excerpt

To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds at the Greenwood Genetic Center (n = 341) and at the University of Adelaide (n = 157). One-hundred forty-four XLID genes were grouped into nine categories based on...

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Identifiers

PMID: 31705537
DOI: 10.1111/cge.13667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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