A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2018
Konular:
Research Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983176/
https://ncbi.nlm.nih.gov/pubmed/29695406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002766
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