RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

doi:10.1016/j.ajhg.2020.10.005

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Article

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

American journal of human genetics - 3 Dec 2020

Palmer Elizabeth E, Carroll Renee, Shaw Marie, Kumar Raman, Minoche Andre E, Leffler Melanie, Murray Lucinda, Macintosh Rebecca, Wright Dale, Troedson Chris, McKenzie Fiona, Townshend Sharron, Ward Michelle, Nawaz Urwah, Ravine Anja, Runke Cassandra K, Thorland Erik C, Hummel Marybeth, Foulds Nicola, Pichon Olivier, Isidor Bertrand, Le Caignec Cédric, Demeer Bénédicte, Andrieux Joris, Albarazi Salam Hadah, Bye Ann, Sachdev Rani, Kirk Edwin P, Cowley Mark J, Field Mike, Gecz Jozef

Abstract excerpt

Interpretation of the significance of maternally inherited X chromosome variants in males with neurocognitive phenotypes continues to present a challenge to clinical geneticists and diagnostic laboratories. Here we report 14 males from 9 families with duplications at the Xq13.2-q13.3 locus with a common facial phenotype, intellectual disability (ID), distinctive behavioral features, and a seizure disorder in two...

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PMID: 33159883
DOI: 10.1016/j.ajhg.2020.10.005
PMCID: PMC7820564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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