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Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome

✍ Scribed by A. Battaglia; A. Novelli; C. Ceccarini; L. Bernardini; J.C. Carey

Book ID: 101450160
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 164 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31590

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## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in ∼50% of individuals with CdLS. Numerous chro