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Am J Med Genet. 1989 Aug;33(4):542-4.

Autosomal recessive form of whistling face syndrome in sibs.

Author information

1
Department of Public Health and Cell Biology, IInd University of Rome, Italy.

Abstract

Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.

PMID:
2596515
DOI:
10.1002/ajmg.1320330426
[Indexed for MEDLINE]

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