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Eur J Pediatr. 1984 Dec;143(2):82-6.

The Coffin-Lowry syndrome. A study of two new index patients and their families.

Abstract

Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.

PMID:
6519116
[Indexed for MEDLINE]

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