Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon (Q34800069)

4 August 2017

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Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon (English)

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4 August 2017

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Williams-Beuren syndrome

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6

Ambroise Wonkam

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4 August 2017

Cedrik Tekendo-Ngongang

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object named as

Cedrik Tekendo-Ngongang

1 reference

4 August 2017

Sophie Dahoun

2

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4 August 2017

Seraphin Nguefack

3

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4 August 2017

Stefania Gimelli

4

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4 August 2017

Frédérique Sloan-Béna

5

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4 August 2017

29 November 2014

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4 August 2017

Molecular syndromology

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4 August 2017

5

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4 August 2017

6

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4 August 2017

287-292

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Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Introduction: Williams syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Williams-Beuren syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

The genomic basis of the Williams-Beuren syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Mutational mechanisms of Williams-Beuren syndrome deletions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Prevalence estimation of Williams syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

American Academy of Pediatrics: Health care supervision for children with Williams syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Elastin: mutational spectrum in supravalvular aortic stenosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281575

26 October 2018

Identifiers

DOI

10.1159/000369421

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4 August 2017

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4 August 2017

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