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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Main Authors: Kant, Sarina G., Broekman, Sander J., de Wit, Caroline C., Bos, Marloes, Scheltinga, Sitha A., Bakker, Egbert, Oostdijk, Wilma, van der Kamp, Hetty J., van Zwet, Erik W., van der Hout, Annemieke H., Wit, Jan M., Losekoot, Monique
格式: Artigo
語言:Inglês
出版: PeerJ Inc. 2013
主題:
Genetics
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3629036/
https://ncbi.nlm.nih.gov/pubmed/23638371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.35
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