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Article

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Journal of medical genetics - 1 Mar 1994

Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D

Abstract excerpt

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were...

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Source

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Identifiers

PMID: 8014976
DOI: 10.1136/jmg.31.3.245
PMCID: PMC1049752

Genes

ATR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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