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Case Reports
. 1987 Dec;28(4):965-70.
doi: 10.1002/ajmg.1320280423.

A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency

J A Hurst  1 , M Baraitser, R M Winter
Affiliations
Case Reports

A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency

J A Hurst et al. Am J Med Genet. 1987 Dec.

Abstract

We describe a brother and sister with mental retardation, short stature, delayed puberty, spherocytic anemia, and an abnormal facial appearance. The similarities to a child with aldolase A deficiency are discussed.

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