Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome (Q34565729)

3 August 2017

title

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

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3 August 2017

author

Veronica van Heyningen

15

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3 August 2017

David R FitzPatrick

16

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author name string

Kathleen A Williamson

1

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3 August 2017

Ann M Hever

2

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3 August 2017

Joe Rainger

3

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R Curtis Rogers

4

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3 August 2017

Alex Magee

5

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3 August 2017

Zdenek Fiedler

6

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3 August 2017

Wee Teik Keng

7

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3 August 2017

Freddie H Sharkey

8

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3 August 2017

Niolette McGill

9

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3 August 2017

Clare J Hill

10

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3 August 2017

Adele Schneider

11

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3 August 2017

Mario Messina

12

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3 August 2017

Peter D Turnpenny

13

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3 August 2017

Judy A Fantes

14

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3 August 2017

publication date

16 March 2006

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3 August 2017

published in

Human Molecular Genetics

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3 August 2017

volume

15

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3 August 2017

issue

9

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3 August 2017

page(s)

1413-1422

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Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome

3 August 2017

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Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome.

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Association of oesophageal atresia, anophthalmia and renal duplex.

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Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature

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Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

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SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

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SOX2 anophthalmia syndrome.

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Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

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Multipotent cell lineages in early mouse development depend on SOX2 function

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Two distinct subgroups of Group B Sox genes for transcriptional activators and repressors: their expression during embryonic organogenesis of the chicken

21 January 2018

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21 January 2018

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21 January 2018

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Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain

21 January 2018

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Fgf10 is essential for limb and lung formation

21 January 2018

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Fgfr2 is required for limb outgrowth and lung-branching morphogenesis

21 January 2018

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Defects in tracheoesophageal and lung morphogenesis in Nkx2.1(-/-) mouse embryos

21 January 2018

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Sonic hedgehog is essential to foregut development

21 January 2018

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Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus

21 January 2018

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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

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21 January 2018

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The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects

21 January 2018

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21 January 2018

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Role of SOX2 mutations in human hippocampal malformations and epilepsy

21 January 2018

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Optical projection tomography as a tool for 3D microscopy and gene expression studies

21 January 2018

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Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDL064

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3 August 2017

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