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Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings

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...

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Bibliografische gegevens
Gepubliceerd in:Am J Med Genet A
Hoofdauteurs: Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5448135/
https://ncbi.nlm.nih.gov/pubmed/26395437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37405
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