Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates (Q33534455)

27 July 2017

title

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates (English)

1 reference

27 July 2017

Bassam R Ali

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Lihadh Al-Gazali

1 reference

27 July 2017

Nadia A Akawi

1 reference

27 July 2017

Faris Chedid

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27 July 2017

Mahmood Bakir

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27 July 2017

Moghis Ur Rehman

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27 July 2017

Aiman Rahmani

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27 July 2017

publication date

25 February 2010

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27 July 2017

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27 July 2017

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27 July 2017

1 reference

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

27 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Ellis-van Creveld syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Genetic disorders in the Arab world

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Asphyxiating thoracic dystrophy with familial characteristics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845574

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-33

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20184732

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-11-33

1 reference

27 July 2017

1 reference

27 July 2017

1 reference