(Q34180637)

31 July 2017

Mutations in SOX2 cause anophthalmia (English)

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7

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Veronica van Heyningen

10

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31 July 2017

David R FitzPatrick

11

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author name string

Judy Fantes

1

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31 July 2017

Nicola K Ragge

2

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31 July 2017

Sally-Ann Lynch

3

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31 July 2017

Niolette I McGill

4

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31 July 2017

J Richard O Collin

5

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31 July 2017

Patricia N Howard-Peebles

6

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31 July 2017

Anthony J Vivian

8

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31 July 2017

Kathy Williamson

9

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31 July 2017

language of work or name

English

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publication date

3 March 2003

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33

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461-463

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4

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https://scigraph.springernature.com/pub.10.1038/ng1120

31 July 2017

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cites work

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region

1 reference

7 January 2021

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

1 reference

7 January 2021

Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5)

1 reference

7 January 2021

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

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7 January 2021

Chromosome arm painting probes

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7 January 2021

The cDNA sequence and chromosomal location of the human SOX2 gene

1 reference

7 January 2021

Embryonic expression of the chicken Sox2, Sox3 and Sox11 genes suggests an interactive role in neuronal development.

1 reference

7 January 2021

The transcription factor cSox2 and Neuropeptide Y define a novel subgroup of amacrine cells in the retina

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7 January 2021

Pairing SOX off: with partners in the regulation of embryonic development

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7 January 2021

Multipotent cell lineages in early mouse development depend on SOX2 function

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7 January 2021

Identifiers

DOI

10.1038/NG1120

1 reference

31 July 2017

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