NAA10 polyadenylation signal variants cause syndromic microphthalmia

BACKGROUND: A single variant in NAA10 (c.471+2T>A), the gene encoding N-acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. In this study, we aimed to identify causative variants in families with syndromic X-linked microphthalmia. METHODS: Three families, including 15 aff...

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Publicado en:J Med Genet
Main Authors: Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Salvotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme CM, Biesecker, Leslie G
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7032957/
https://ncbi.nlm.nih.gov/pubmed/30842225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105836
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