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Article

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

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

Al-Amri Ahmed, Saegh Abeer Al, Al-Mamari Watfa, El-Asrag Mohammed E, Ivorra Jose L, Cardno Alastair G, Inglehearn Chris F, Clapcote Steven J, Ali Manir

Abstract excerpt

Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ score of less than 70 and difficulties associated with limitations in cognitive function and adaptive behavior. The condition can be inherited or caused by environmental factors. The genetic forms are heterogeneous, with mutations in over 500 known genes...

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Identifiers

PMID: 27148795
DOI: 10.1002/ajmg.a.37690

Genes

TUSC3

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