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
โฆ LIBER โฆ
Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome
โ Scribed by de Die-Smulders, Christine ;Schrander-Stumpel, Connie ;Fryns, Jean-Pierre ;Theunissen, Pierre
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 57 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
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