A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. (Q39894832)

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3 February 2020

title

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia (English)

1 reference

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3 February 2020

1

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3 February 2020

Andrzej Szpak

3

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3 February 2020

Maciej Krawczyński

5

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3 February 2020

Bartlomiej Budny

6

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3 February 2020

8

A Latos-Bieleńska

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3 February 2020

author name string

M Wisniewska

2

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3 February 2020

G Bugaj

4

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3 February 2020

A Wawrocka

7

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3 February 2020

publication date

1 January 2009

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Journal of Applied Genetics

3 February 2020

published in

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3 February 2020

volume

50

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3 February 2020

issue

3

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3 February 2020

page(s)

297-299

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Oculodentodigital dysplasia. Four new reports and a literature review

3 February 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007/BF03195687

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

21 January 2018

1 reference

12 December 2020

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia

1 reference

12 December 2020

Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family

1 reference

12 December 2020

Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father.

1 reference

12 December 2020

Neurological manifestations of the oculodentodigital dysplasia syndrome

1 reference

12 December 2020

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24

1 reference

12 December 2020

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

1 reference

12 December 2020

[The microphthalmos syndrome]

1 reference

12 December 2020

Novel mutations in GJA1 cause oculodentodigital syndrome

1 reference

12 December 2020

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

1 reference

12 December 2020

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

1 reference

12 December 2020

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome

1 reference

12 December 2020

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

1 reference

12 December 2020