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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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Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2018
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Accés en línia: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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