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Case Reports
. 1978;1(3):291-9.
doi: 10.1002/ajmg.1320010305.

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

J T Martsolf, A G Hunter, J C Haworth
Case Reports

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

J T Martsolf et al. Am J Med Genet. 1978.

Abstract

Two severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.

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