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Article

A clinical and genetic study of campomelic dysplasia.

Journal of medical genetics - 1 Jun 1995

Mansour S, Hall C M, Pembrey M E, Young I D

Abstract excerpt

Campomelic dysplasia (CMD) is a rare skeletal disorder that is usually lethal. It is characterised by bowing of the lower limbs, severe respiratory distress, and many of the chromosomal (XY) males show sex reversal. Because of a number of reports of familial campomelic dysplasia it is considered to be inherited in an autosomal recessive manner. In this study, details of 36 patients with campomelic dysplasia were...

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Identifiers

PMID: 7666392
DOI: 10.1136/jmg.32.6.415
PMCID: PMC1050480

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