Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations (Q24298949)

GOA release 2020-03-11

eye development

1 reference

GOA release 2020-03-11

author

Veronica van Heyningen

29

object named as

Veronica van Heyningen

Veronica

van Heyningen

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19 October 2023

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Chris P Ponting

Chris P

Ponting

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19 October 2023

Mira Kharbanda

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Mira

Kharbanda

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19 October 2023

Claudia Gonzaga-Jauregui

object named as

Claudia Gonzaga-Jauregui

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Claudia

Gonzaga-Jauregui

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19 October 2023

Martin S Taylor

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Martin S

Taylor

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19 October 2023

David R FitzPatrick

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David R

FitzPatrick

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19 October 2023

Dinesh C Soares

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Dinesh C

Soares

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19 October 2023

Stefan Johansson

3

Stefan

Johansson

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19 October 2023

Carl A Anderson

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Carl A

Anderson

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19 October 2023

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James R Lupski

James R

Lupski

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19 October 2023

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Richard A Gibbs

Richard A

Gibbs

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ORCID Public Data File 2021

19 October 2023

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Donna M Muzny

Donna M

Muzny

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19 October 2023

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Denise Horn

Denise

Horn

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19 October 2023

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Shalini Jhangiani

Shalini

Jhangiani

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19 October 2023

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Ender Karaca

Ender

Karaca

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19 October 2023

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Matthew E Hurles

Matthew E

Hurles

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19 October 2023

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Tahsin Yakut

Tahsin

Yakut

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19 October 2023

2

Davut Pehlivan

Davut

Pehlivan

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19 October 2023

Joe Rainger

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Joe

Rainger

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19 October 2023

Hemant Bengani

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Hemant

Bengani

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19 October 2023

Luis Sanchez-Pulido

5

Luis

Sanchez-Pulido

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19 October 2023

Kathleen A Williamson

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Kathleen A

Williamson

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19 October 2023

Mehmet Ture

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Mehmet

Ture

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19 October 2023

Heather Barker

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Heather

Barker

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19 October 2023

Karen Rosendahl

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Karen

Rosendahl

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19 October 2023

Jürgen Spranger

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Jürgen

Spranger

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19 October 2023

Alison Meynert

12

Alison

Meynert

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19 October 2023

James A B Floyd

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James A B

Floyd

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19 October 2023

Trine Prescott

14

Trine

Prescott

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19 October 2023

Jacqueline K Rainger

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Jacqueline K

Rainger

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19 October 2023

Anne Seawright

21

Anne

Seawright

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19 October 2023

Victoria Murday

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Victoria

Murday

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19 October 2023

Andrew Finch

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Andrew

Finch

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19 October 2023

Per M Knappskog

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Per M

Knappskog

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19 October 2023

Gunnar Houge

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Gunnar

Houge

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American Journal of Human Genetics

19 October 2023

language of work or name

English

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publication date

5 June 2014

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published in

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volume

94

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issue

6

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page(s)

915-23

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cites work

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

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19 March 2017

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19 March 2017

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Requirement for Mab21l2 during development of murine retina and ventral body wall

19 March 2017

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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

19 March 2017

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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

19 March 2017

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Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

27 September 2017

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

27 September 2017

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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

27 September 2017

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27 September 2017

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Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

27 September 2017

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27 September 2017

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Mutations in SOX2 cause anophthalmia

27 September 2017

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27 September 2017

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29 November 2018

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29 November 2018

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29 November 2018

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DOI

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release_s5qokwlksjeove7yufrlhmncsi

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