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GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature.

作者信息

Kupchik G S, Ludman M D, Raab E L, Gilbert F

机构信息

Department of Pediatrics, Mount Sinai School of Medicine, New York.

出版信息

Am J Med Genet. 1992 Jan 1;42(1):1-4. doi: 10.1002/ajmg.1320420102.

Abstract

We describe a mother and daughter with a distinct phenotype that is different from previous reports. This is likely to constitute a new syndrome for which we propose the mnemonic GMS for G goniodysgenesis, M mental deficiency, and S short stature. The pattern of occurrence is compatible with either autosomal dominant or X-linked inheritance.

摘要

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