Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Psychomotor retardation



Total: 2

                      


(per page)
PMID (PMCID)
7726225
MIXED_SAMPLE Infant
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al..
Am J Med Genet. 1995;55(3):288-99.
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia.
7726225
MIXED_SAMPLE Infant
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al..
Am J Med Genet. 1995;55(3):288-99.
The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia.