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Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

✍ Scribed by Fatih Tufan; Kivanc Cefle; Seval Türkmen; Aydin Türkmen; Unal Zorba; Memduh Dursun; Sükrü Oztürk; Sükrü Palandüz; Tevfik Ecder; Stefan Mundlos; Denise Horn


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
229 KB
Volume
136A
Category
Article
ISSN
1552-4825

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## Abstract Prader–Willi syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11‐q13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints BP1 or BP2 and BP3. Atypical deletions