Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (Q30666704)

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21 February 2020

title

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia (English)

1 reference

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Brigitte Gilbert-Dussardier

21 February 2020

author

10

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21 February 2020

Didier Lacombe

16

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21 February 2020

Annick Toutain

24

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21 February 2020

Josseline Kaplan

26

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21 February 2020

8

H Dollfus

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21 February 2020

author name string

N Chassaing

1

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21 February 2020

A Causse

2

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21 February 2020

A Vigouroux

3

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21 February 2020

A Delahaye

4

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21 February 2020

J-L Alessandri

5

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21 February 2020

O Boespflug-Tanguy

6

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21 February 2020

O Boute-Benejean

7

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21 February 2020

B Duban-Bedu

9

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21 February 2020

F Giuliano

11

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21 February 2020

M Gonzales

12

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21 February 2020

M Holder-Espinasse

13

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21 February 2020

B Isidor

14

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21 February 2020

M-L Jacquemont

15

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21 February 2020

D Martin-Coignard

17

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21 February 2020

M Mathieu-Dramard

18

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21 February 2020

S Odent

19

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21 February 2020

O Picone

20

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21 February 2020

L Pinson

21

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21 February 2020

C Quelin

22

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21 February 2020

S Sigaudy

23

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21 February 2020

C Thauvin-Robinet

25

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21 February 2020

Patrick Calvas

27

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21 February 2020

publication date

7 October 2013

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21 February 2020

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21 February 2020

volume

86

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21 February 2020

page(s)

326-334

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21 February 2020

issue

4

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Anophthalmia and microphthalmia

21 February 2020

cites work

1 reference

Eye development genes and known syndromes

21 January 2018

1 reference

SOX2 anophthalmia syndrome.

21 January 2018

1 reference

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

21 January 2018

1 reference

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

21 January 2018

1 reference

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

21 January 2018

1 reference

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

21 January 2018

1 reference

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans

21 January 2018

1 reference

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

21 January 2018

1 reference

PAX6 mutations: genotype-phenotype correlations

21 January 2018

1 reference

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

21 January 2018

1 reference

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

21 January 2018

1 reference

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12275

1 reference

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21 February 2020

1 reference

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