(Q45840454)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024553%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia (English)

1 reference

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20 February 2020

1 reference

9

1 reference

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20 February 2020

Mingyan Fang

2

1 reference

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20 February 2020

Karen Grønskov

11

1 reference

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20 February 2020

Zeynep Tumer

12

1 reference

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20 February 2020

author name string

L Roos

1

1 reference

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20 February 2020

C Dali

3

1 reference

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20 February 2020

H Jensen

4

1 reference

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20 February 2020

N Christoffersen

5

1 reference

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20 February 2020

B Wu

6

1 reference

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20 February 2020

J Zhang

7

1 reference

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20 February 2020

R Xu

8

1 reference

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20 February 2020

X Xu

10

1 reference

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20 February 2020

publication date

25 October 2013

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20 February 2020

1 reference

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20 February 2020

volume

86

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20 February 2020

issue

3

1 reference

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20 February 2020

page(s)

276-281

1 reference

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Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management

20 February 2020

cites work

1 reference

Heterozygous mutations of OTX2 cause severe ocular malformations

21 January 2018

1 reference

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities

21 January 2018

1 reference

Homozygous null mutation in ODZ3 causes microphthalmia in humans

21 January 2018

1 reference

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

21 January 2018

1 reference

Mutations in ALDH1A3 cause microphthalmia.

21 January 2018

1 reference

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

21 January 2018

1 reference

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

21 January 2018

1 reference

Keeping an eye on retinoic acid signaling during eye development

21 January 2018

1 reference

Retinoic acid signalling during development

21 January 2018

1 reference

High levels of a retinoic acid-generating dehydrogenase in the meso-telencephalic dopamine system.

21 January 2018

1 reference

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.

21 January 2018

1 reference

Sheep liver cytosolic aldehyde dehydrogenase: the structure reveals the basis for the retinal specificity of class 1 aldehyde dehydrogenases

21 January 2018

1 reference

Features and development of Coot

21 January 2018

1 reference

Clustal W and Clustal X version 2.0

21 January 2018

1 reference

Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome

21 January 2018

1 reference

Retinoic acid delineates the topography of neuronal plasticity in postnatal cerebral cortex.

21 January 2018

1 reference

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024553%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference