(Q95781605)

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Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

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30 May 2020

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? (English)

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Europe PubMed Central

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30 May 2020

Waardenburg syndrome type 3

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1

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30 May 2020

author name string

J N Bodurtha

2

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30 May 2020

W E Nance

3

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30 May 2020

A Pandya

4

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30 May 2020

publication date

1 October 2001

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30 May 2020

Clinical Genetics

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30 May 2020

60

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30 May 2020

4

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30 May 2020

301-304

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30 May 2020

Upper limb involvement in the Klein-Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The mutational spectrum in Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant inheritance of Klein-Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Possible homozygous Waardenburg syndrome in a fetus with exencephaly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Pax3 modulates expression of the c-Met receptor during limb muscle development

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Ectopic Pax-3 activates MyoD and Myf-5 expression in embryonic mesoderm and neural tissue

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2001.600408.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11683776%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11683776%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

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