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Article

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.

American journal of medical genetics - 1 Aug 1992

Kaler S G, Garrity A M, Stern H J, Rosenbaum K N, Orrison B M, Marini J C, Bernardini I, Saal H M

Abstract excerpt

We report on 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents (inbreeding coefficient F = 1/64) have 6 other offspring, 3 of whom died in infancy of type II osteogenesis imperfecta (OI), and 3 of whom are normal. We analyzed collagens synthesized by cultured fibroblasts from these...

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Identifiers

PMID: 1415349
DOI: 10.1002/ajmg.1320430615

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