Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen Williamson; H. Nikki Hall; Liusaidh Owen; Benjamin Livesey; Isabel Hanson; G. Adams; Simon Bodek; Patrick Calvas; Bruce Castle; Michael Clarke; Alexander Deng; Patrick Edery; Richard Fisher; Gabriele Gillessen-Kaesbach; Elise Heon; Jane Hurst; Dragana Josifova; Birgit Lorenz; Shane Mckee; Francoise Meire; Anthony Moore; Michael Parker; Charlotte Reiff; Jay Self; Edward Tobias; Joke Verheij; Marjolaine Willems; Denise Williams; Veronica van Heyningen; Joseph Marsh; David Fitzpatrick

doi:10.1038/s41436-019-0685-9

Retour

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Article de revue

Open Access

Avec comité de lecture

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen Williamson, H. Nikki Hall, Liusaidh Owen, Benjamin Livesey, Isabel Hanson, G. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, …

Genetics in Medicine, Vol.22(3), pp.598-609

03/2020

DOI: https://doi.org/10.1038/s41436-019-0685-9

Fichiers et liens (2)

url

Find in HALAfficher

url

https://doi.org/10.1038/s41436-019-0685-9Afficher

Published (Version of record) Ouvrir

Indicateurs

1 Consultations de la notice

See more details

Détails

Titre: Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Créateurs - sans rôle: Kathleen Williamson - Institute of Genetics and Cancer
H. Nikki Hall - Institute of Genetics and Cancer
Liusaidh Owen - Institute of Genetics and Cancer
Benjamin Livesey - Institute of Genetics and Cancer
Isabel Hanson - Institute of Genetics and Cancer
G. Adams - University College London
Simon Bodek - St Michaels Hospital
Patrick Calvas - Hôpital Purpan
Bruce Castle - Heavitree Hospital
Michael Clarke - Newcastle upon Tyne Hospitals NHS Foundation Trust
Alexander Deng - Guy's and St Thomas' NHS Foundation Trust
Patrick Edery - Hospices Civils de Lyon
Richard Fisher - James Cook University Hospital
Gabriele Gillessen-Kaesbach - University of Lübeck
Elise Heon - Hospital for Sick Children
Jane Hurst - Great Ormond Street Hospital
Dragana Josifova - Guy's and St Thomas' NHS Foundation Trust
Birgit Lorenz - Justus-Liebig-Universität Gießen
Shane Mckee - University of Ulster
Francoise Meire - Queen Fabiola Children's University Hospital
Anthony Moore - Moorfields Eye Hospital
Michael Parker - Sheffield Children's NHS Foundation Trust
Charlotte Reiff - University of Freiburg
Jay Self - University Hospital Southampton NHS Foundation Trust
Edward Tobias - Queen Elizabeth University Hospital
Joke Verheij
Marjolaine Willems - Université de Montpellier, Institut des Neurosciences de Montpellier - INM
Denise Williams - Birmingham Women's Hospital
Veronica van Heyningen - Institute of Genetics and Cancer
Joseph Marsh - Institute of Genetics and Cancer
David Fitzpatrick - University of Edinburgh
Détails de publication: Genetics in Medicine, Vol.22(3), pp.598-609
Identifiants: 99153118309311
Unité académique: Institut des Neurosciences de Montpellier - INM
Langue: English
Type de ressource: Journal article
Champs locaux: hal-04943595