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Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome

✍ Scribed by Shaffer, Lisa G. ;Overhauser, Joan ;Jackson, Laird G. ;Ledbetter, David H.


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

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## Abstract Brachmann–de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and a distinctive craniofacial appearance. There is wide clinical variability and mildly affected patients are common. The genetic basi