Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous families with biallelic homozygous loss-of-function mutat...

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Publicat a:Am J Hum Genet
Autors principals: Di Gioia, Silvio Alessandro, Shaaban, Sherin, Tüysüz, Beyhan, Elcioglu, Nursel H., Chan, Wai-Man, Robson, Caroline D., Ecklund, Kirsten, Gilette, Nicole M., Hamzaoglu, Azmi, Tayfun, Gulsen Akay, Traboulsi, Elias I., Engle, Elizabeth C.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
Matèries:
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6035164/
https://ncbi.nlm.nih.gov/pubmed/29887215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.05.003
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