X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

doi:10.1136/jmg.28.11.738

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Article

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Journal of medical genetics - 1 Nov 1991

Wilkie A O, Gibbons R J, Higgs D R, Pembrey M E

Abstract excerpt

We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving bro...

Topics

Adolescent
Adult
Child, Preschool
Face
Female
Genetic Linkage
Heterozygote
Humans
Intellectual Disability
Male
Pedigree
Phenotype
Syndrome
Thalassemia
X Chromosome

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