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Am J Med Genet. 1990 Aug;36(4):440-3.

Boomerang dysplasia.

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1
Department of Human Genetics, University of Cape Town Medical School, South Africa.

Abstract

Boomerang dysplasia is a recently delineated form of neonatally lethal dwarfism. A fourth case has been investigated and an increased range of phenotypic manifestations is documented in this article. So far all affected infants have been males and X-linked recessive inheritance is possible. Diagnostic criteria for Boomerang dysplasia are outlined.

PMID:
2202214
DOI:
10.1002/ajmg.1320360413
[Indexed for MEDLINE]
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