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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Gepubliceerd in:J Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2019
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Article
Online toegang: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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