Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of transcription factors that play essential roles during epithelial development. Haploinsufficiency for GRHL2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated with any skin pa...

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Autors principals: Petrof, Gabriela, Nanda, Arti, Howden, Jake, Takeichi, Takuya, McMillan, James R., Aristodemou, Sophia, Ozoemena, Linda, Liu, Lu, South, Andrew P., Pourreyron, Celine, Dafou, Dimitra, Proudfoot, Laura E., Al-Ajmi, Hejab, Akiyama, Masashi, McLean, W.H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4157147/
https://ncbi.nlm.nih.gov/pubmed/25152456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.08.001
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