Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Context. Leri–Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3’-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported, but its frequency and clinical importan...

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Bibliographic Details
Main Authors: Sarina G. Kant, Sander J. Broekman, Caroline C. de Wit, Marloes Bos, Sitha A. Scheltinga, Egbert Bakker, Wilma Oostdijk, Hetty J. van der Kamp, Erik W. van Zwet, Annemieke H. van der Hout, Jan M. Wit, Monique Losekoot
Format: Article
Language:English
Published: PeerJ Inc. 2013-02-01
Series:PeerJ
Subjects:
Downstream deletion
Phenotype
SHOX
Short stature
Disproportion
Madelung
Online Access:https://peerj.com/articles/35.pdf

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https://peerj.com/articles/35.pdf

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