Dominant‐negative SOX9 mutations in campomelic dysplasia

Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletal dysplasia characterized by a small chest and short long bones with bowing of the lower extremities. CD is the result of heterozygosity for mutations in the gene encoding the chondrogenesis master regulator, SOX9. Loss‐of‐f...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Csukasi, Fabiana, Duran, Ivan, Zhang, Wenjuan, Martin, Jorge H., Barad, Maya, Bamshad, Michael, Weis, Mary Ann, Eyre, David, Krakow, Deborah, Cohn, Daniel H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608528/
https://ncbi.nlm.nih.gov/pubmed/31389106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23888
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