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The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome
Author(s) -
AMER MOHAMMED,
ELSHAZLY MOHAMMED
Publication year - 1974
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1974.tb06399.x
Subject(s) - waardenburg syndrome , medicine , family medicine , library science , dermatology , classics , history , phenotype , biochemistry , chemistry , gene , computer science
SUMMARY Six members of a family were discovered to have many of the manifestations of Waardenburg's syndrome, and increased levels of total serum lipids. The latter was marked in most of the members, especially in those who also had xanthomata. In this study the clinical and laboratory findings are presented. Relationships between these syndromes, both of which are known to be autosomal dominant traits, are examined.