Exocrine pancreatic insufficiency and muscular dystrophy in a father and daughter - a new syndrome
β Scribed by Khalid Khan; Steven Smith; Nancy Mendelsohn
- Book ID
- 119393097
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 33 KB
- Volume
- 97
- Category
- Article
- ISSN
- 0002-9270
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## Abstract We report on a father to daughter transmission of BarberβSay syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritanc