(Q33594911)

28 July 2017

title

Waardenburg syndrome and myelomeningocele in a family (English)

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28 July 2017

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S Chatkupt

1

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28 July 2017

S Chatkupt

series ordinal

2

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28 July 2017

W G Johnson

series ordinal

3

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28 July 2017

language of work or name

English

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publication date

1 January 1993

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

1

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28 July 2017

page(s)

83-84

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28 July 2017

cites work

The Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

Malformation syndromes: a review of mouse/human homology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

Waardenburg syndrome associated with meningomyelocele

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016244

The syndrome of Waardenburg

14 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8423616

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.1.83

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28 July 2017

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28 July 2017

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