Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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1. Identification of USP9X as a leukemia susceptibility gene;Blood Advances;2023-08-11
2. Novel Variant in the <b><i>USP9X</i></b> Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review;Molecular Syndromology;2022-12-23
3. A patient with mosaic USP9X gene variant;European Journal of Medical Genetics;2022-12
4. Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability;American Journal of Medical Genetics Part A;2022-03-07
5. Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X , DDX3X , and CASK genes in two patients with syndromic intellectual disability;American Journal of Medical Genetics Part A;2022-03-03
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