Article
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
Human mutation - 1 Aug 2014
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
Abstract excerpt
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 partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS)...
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