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

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 pa...

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Main Authors: Gordon, Christopher T. (Author), Attanasio, Catia (Author), Bhatia, Shipra (Author), Benko, Sabina (Author), Ansari, Morad (Author), Tan, Tiong Y. (Author), Munnich, Arnold (Author), Pennacchio, Len A. (Author), Abadie, Véronique (Author), Temple, I. Karen (Author), Goldenberg, Alice (Author), van Heyningen, Veronica (Author), Amiel, Jeanne (Author), FitzPatrick, David (Author), Kleinjan, Dirk A. (Author), Visel, Axel (Author), Lyonnet, Stanislas (Author)
Format: Article
Language:English
Published: 2014-08.
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