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A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.

The Journal of investigative dermatology - 1 Feb 2005

Rafiq Muhammad Arshad, Faiyaz-Ul-Haque Mohammad, Ud Din Mohammad Amin, Malik Sajid, Sohail Muhammad, Anwar Maqsood, Haque Sayedul, Paterson Andrew D, Tsui Lap-Chee, Ahmad Wasim

Abstract excerpt

Ectodermal dysplasia (ED) represents a heterogeneous group of genetic disorders characterized by the absence or deformity in two or more of the ectodermal appendages. We have studied an autosomal recessive form of ED in 13 individuals over six generations from an inbred Pakistani family. The clinical features of the affected individuals include highly dystrophic nails and thin hair on scalp, fine eyebrows and...

Topics

Chromosomes, Human, Pair 10
Ectodermal Dysplasia
Female
Genes, Recessive
Genotype
Humans
Lod Score
Male
Microsatellite Repeats
Pakistan
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15675952
DOI: 10.1111/j.0022-202X.2004.23594.x

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