Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions and duplications within a ~2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or par...

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Publicat a:Hum Mutat
Autors principals: Gordon, Christopher T., Attanasio, Catia, Bhatia, Shipra, Benko, Sabina, Ansari, Morad, Tan, Tiong Y., Munnich, Arnold, Pennacchio, Len A., Abadie, Véronique, Temple, I. Karen, Goldenberg, Alice, van Heyningen, Veronica, Amiel, Jeanne, FitzPatrick, David, Kleinjan, Dirk A., Visel, Axel, Lyonnet, Stanislas
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4389788/
https://ncbi.nlm.nih.gov/pubmed/24934569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22606
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