Browsing Artigo by Author "Dias, Alex Marcel Moreira"
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Artigo
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
Dias, Alex Marcel Moreira; Lezirovitz, Karina; Nicastro, Fernanda Stávale; Mendes, Beatriz C. A.; Mingroni-Netto, Regina Célia (J Hum Genet. 2019 Mar;64(3):257-260. doi: 10.1038/s10038-018-0546-4., 2019-03)Mutations in the CEACAM6 gene were first described as causing autosomal dominant nonsyndromic hearing loss, but two splice-altering variants have been recently described as causing autosomal recessive nonsyndromic hearing ...