Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

Campomelic dysplasia (CD) is a rare, neonatal human chondrodysplasia characterized by bowing of the long bones and often associated with male-to-female sex-reversal. Patients present with either heterozygous mutations in the SOX9 gene or chromosome rearrangements mapping at least 50 kb upstream of S...

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Hlavní autoři: Wunderle, Véronique M., Critcher, Ricky, Hastie, Nicholas, Goodfellow, Peter N., Schedl, Andreas
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences 1998
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC27949/
https://ncbi.nlm.nih.gov/pubmed/9724758
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