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Familial Brachmann-de Lange syndrome: Further evidence for autosomal dominant inheritance and review of the literature

โœ Scribed by Feingold, Murray ;Lin, Angela E.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
340 KB
Volume
47
Category
Article
ISSN
0148-7299

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Autosomal dominant inheritance of Brachm
โœ Kozma, Chahira ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 411 KB ๐Ÿ‘ 1 views

A mother with mild phenotype and her severely affected son, both with classic manifestations of Brachmann-de Lange syndrome (BDLS), are described. This documented mother-to-child transmission supports the hypothesis of autosomal dominant transmission with intrafamilial variability. Known cases of BD