Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

PURPOSE: Interferon Regulatory Factor 6 (IRF6) encodes a member of the IRF family of transcription factors. Mutations in IRF6 cause Van der Woude (VWS) and popliteal pterygium syndromes (PPS), two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution o...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ferreira de Lima, Renata L. L., Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo, Murray, Jeffrey C., Schutte, Brian C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2789395/
https://ncbi.nlm.nih.gov/pubmed/19282774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318197a49a
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados