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A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

Abstract Background Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. Methods This study used exome and Sanger sequencing to resolve the possible genetic cause of non-syndromic HI in a Gh...

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Autori principali: Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2022-11-01
Serie:BMC Medical Genomics
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Accesso online:https://doi.org/10.1186/s12920-022-01391-w
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