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Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.

作者信息

RamaDevi A R, Reddy E C, Ranjan S, Bashyam M D

机构信息

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nacharam, Hyderabad 500 076, India.

出版信息

Br J Dermatol. 2008 Jan;158(1):163-7. doi: 10.1111/j.1365-2133.2007.08231.x. Epub 2007 Oct 26.

DOI:10.1111/j.1365-2133.2007.08231.x
PMID:17970812
Abstract
摘要

相似文献

[1]
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.

Br J Dermatol. 2008-1

[2]
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Arch Dermatol Res. 2009-9

[3]
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clin Genet. 2010-2-24

[4]
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

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[5]
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.

Orthod Craniofac Res. 2011-7-14

[6]
A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.

Arch Dermatol Res. 2009-12-24

[7]
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Hum Mutat. 2007-7

[8]
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.

Pediatr Dermatol. 2010

[9]
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic.

Hum Genet. 2010-1

[10]
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Br J Dermatol. 2012-3-5

引用本文的文献

[1]
Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Pediatr Res. 2024-5

[2]
Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Variants and the X-Chromosome Inactivation Pattern.

Diagnostics (Basel). 2022-9-23

[3]
Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.

Indian J Dermatol. 2022

[4]
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

J Hum Genet. 2016-10

[5]
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.

Ann Dermatol. 2015-8

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