Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inversions misregulating HOXD genes are respons...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2019
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7028936/
https://ncbi.nlm.nih.gov/pubmed/31591517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0522-2
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller