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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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Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2018
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Accesso online: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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