A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. (Q51290246)

2 April 2018

title

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. (English)

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2 April 2018

author

Ethylin Wang Jabs

5

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2 April 2018

author name string

Xiaoqian Ye

1

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2 April 2018

Guangtai Song

2

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2 April 2018

Mingwen Fan

3

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2 April 2018

Lisong Shi

4

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2 April 2018

Shangzhi Huang

6

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2 April 2018

Ruiqiang Guo

7

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2 April 2018

Zhuan Bian

8

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2 April 2018

publication date

11 January 2006

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2 April 2018

published in

Human Genetics

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2 April 2018

volume

119

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2 April 2018

issue

1-2

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2 April 2018

page(s)

199-205

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2 April 2018

Cellular distribution of lesions in Batten disease.

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0129-2

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish

21 January 2018

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12 December 2020

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

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Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

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12 December 2020

Oral manifestations of the Ellis-van Creveld syndrome

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Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome

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12 December 2020

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

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12 December 2020

Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

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12 December 2020

Study on weight and height of the Chinese people and the differences between 1992 and 2002

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12 December 2020

Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant

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Diagnostic dilemmas in the short rib-polydactyly syndrome group

1 reference

12 December 2020

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

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12 December 2020

Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

12 December 2020

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

1 reference

12 December 2020

Bidirectional gene organization: a common architectural feature of the human genome.

1 reference

12 December 2020

A 165-base pair sequence between the dihydrofolate reductase gene and the divergently transcribed upstream gene is sufficient for bidirectional transcriptional activity

1 reference

12 December 2020

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia

1 reference

12 December 2020

The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

1 reference

12 December 2020

Cardiac Ellis-van Creveld syndrome

1 reference

12 December 2020

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

1 reference

12 December 2020

Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region

1 reference

12 December 2020

Ellis-van Creveld syndrome and the Amish.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Weyers acrodental dysostosis in a family

1 reference

12 December 2020

Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes

1 reference

12 December 2020

Brief clinical report: Curry-Hall syndrome

1 reference

12 December 2020

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus

1 reference

12 December 2020

Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene

1 reference

12 December 2020

10.1007/S00439-005-0129-2

Identifiers

DOI

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2 April 2018

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2 April 2018