Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family (Q24307763)

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English	Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family	scientific article

Statements

instance of

scholarly article

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case report

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title

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family (English)

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main subject

Wnt family member 3

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stated in

GOA release 2020-03-11

limb bud formation

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stated in

GOA release 2020-03-11

tetra-amelia

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based on heuristic

inferred from title

homozygosity

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based on heuristic

inferred from title

author

Lee Niswander

object named as

Lee Niswander

series ordinal

6

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James L. Weber

series ordinal

7

object named as

James L Weber

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author name string

Stephan Niemann

series ordinal

1

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Chengfeng Zhao

series ordinal

2

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Filon Pascu

series ordinal

3

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Ulrich Stahl

series ordinal

4

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Ute Aulepp

series ordinal

5

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Ulrich Müller

series ordinal

8

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language of work or name

English

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publication date

March 2004

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published in

American Journal of Human Genetics

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volume

74

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issue

3

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page(s)

558-63

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cites work

Requirement for Wnt3 in vertebrate axis formation

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stated in

PubMed Central

reference URL

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19 March 2017

Ectodermal Wnt3/beta-catenin signaling is required for the establishment and maintenance of the apical ectodermal ridge

1 reference

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PubMed Central

reference URL

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19 March 2017

Fgf10 is essential for limb and lung formation

1 reference

stated in

PubMed Central

reference URL

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retrieved

19 March 2017

The roles of FGFs in the early development of vertebrate limbs

1 reference

stated in

PubMed Central

reference URL

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retrieved

19 March 2017

Molecular models for vertebrate limb development

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

19 March 2017

Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4

1 reference

stated in

PubMed Central

reference URL

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retrieved

19 March 2017

Fibroblast growth factors induce additional limb development from the flank of chick embryos

1 reference

stated in

PubMed Central

reference URL

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19 March 2017

Mechanisms of Wnt signaling in development

1 reference

stated in

PubMed Central

reference URL

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retrieved

7 April 2017

Easy calculations of lod scores and genetic risks on small computers

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PubMed Central

reference URL

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retrieved

7 April 2017

Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

27 September 2017

Pattern formation: old models out on a limb.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

27 September 2017

Molecular basis of vertebrate limb patterning

1 reference

stated in

PubMed Central

reference URL

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27 September 2017

Making a vertebrate limb: new players enter from the wings

1 reference

stated in

PubMed Central

reference URL

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27 September 2017

Vertebrate limb development--the early stages in chick and mouse

1 reference

stated in

PubMed Central

reference URL

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27 September 2017

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

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27 September 2017

Signaling by wingless in Drosophila

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

27 September 2017

Tetra-amelia with multiple malformations in six male fetuses of one kindred.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

30 May 2018

Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

30 May 2018

WNT signals control FGF-dependent limb initiation and AER induction in the chick embryo.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182269

retrieved

29 November 2018

Roberts syndrome or "X-linked amelia"?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14872406

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndrome of tetraamelia with pulmonary hypoplasia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14872406

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14872406

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/382196

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3303469

OpenCitations bibliographic resource ID

3303469

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3303469

PMC publication ID

1182269

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3303469

PubMed publication ID

14872406

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3303469

ResearchGate publication ID

8778812

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