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Article

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

The Indian journal of medical research - 1 Jan 2016

Bouazzi Habib, Thakur Seema, Trujillo Carlos, Alwasiyah Mohammad Khalid, Munnich Arnold

Abstract excerpt

BACKGROUND & OBJECTIVES: ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not express this sign despite the ATRX gene being altered. Most pathological mutations have been localized in two different major...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26997013
DOI: 10.4103/0971-5916.178589
PMCID: PMC4822368

Genes

ATRX

Variants

Provenance

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Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.PMID 26997013Read ↗

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