X‐linked intellectual disability: Phenotypic expression in carrier females

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 a...

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Veröffentlicht in:	Clinical genetics 2020-03, Vol.97 (3), p.418-425
Hauptverfasser:	Ziats, Catherine A., Schwartz, Charles E., Gecz, Jozef, Shaw, Marie, Field, Michael J., Stevenson, Roger E., Neri, Giovanni
Format:	Artikel
Sprache:	eng
Schlagworte:	Cognitive ability female carriers Females Gene expression Genotype & phenotype Intellectual disabilities intellectual disability Phenotypes X‐inactivation X‐linkage
Online-Zugang:	Volltext
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