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Article

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

American journal of medical genetics. Part A - 1 Jan 2016

Ben-Salem Salma, Sobreira Nara, Akawi Nadia A, Al-Shamsi Aisha M, John Anne, Pramathan Thachillath, Valle David, Ali Bassam R, Al-Gazali Lihadh

Abstract excerpt

The gene encoding the AT-rich interaction domain-containing protein 1B (ARID1B) has recently been shown to be one of the most frequently mutated genes in patients with intellectual disability (ID). The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe non-specific ID to Coffin-Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati...

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PMID: 26395437
DOI: 10.1002/ajmg.a.37405
PMCID: PMC5448135

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