NAA10 polyadenylation signal variants cause syndromic microphthalmia
NAA10 polyadenylation signal variants cause syndromic microphthalmia
About this item
Full title
Author / Creator
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 , Slavotinek, Anne M , FitzPatrick, David R , Glaser, Thomas M , Stewart, Fiona , Black, Graeme CM and Biesecker, Leslie G
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundA 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.MethodsThree families, including 15 affected individuals with syndromic X-linked microphthalmia,...
Alternative Titles
Full title
NAA10 polyadenylation signal variants cause syndromic microphthalmia
Authors, Artists and Contributors
Author / Creator
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
Slavotinek, Anne M
FitzPatrick, David R
Glaser, Thomas M
Stewart, Fiona
Black, Graeme CM
Biesecker, Leslie G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7032957
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7032957
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2018-105836
