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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2013
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629036/
https://www.ncbi.nlm.nih.gov/pubmed/23638371
http://dx.doi.org/10.7717/peerj.35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629036/
https://www.ncbi.nlm.nih.gov/pubmed/23638371
http://dx.doi.org/10.7717/peerj.35

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