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Hum Genet. 1979 Nov;52(2):221-6.

Heterozygous expression in 3-M slender-boned nanism.

Abstract

A 15-year-old girl affected by autosomal recessive 3-M slender boned nanism (3-MSBN) was studied. The clinically normal parents, two other obligate and two probable heterozygotes for the 3-MSBN gene from an unrelated family were radiologically investigated. All except one probably heterozygote showed mild features of the 3-MSBN, mainly bone slenderness and prominent talus. These findings are interpreted as demonstrative of the heterozygotic expression of the 3-MSBN gene.

PMID:
511178
[Indexed for MEDLINE]
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