A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-02

AUTHORS

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

ABSTRACT

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 eyelashes, and thin body hair. Genome-wide linkage analysis of 390 microsatellite markers mapped the ED gene to the 3.92 cM interval flanked by markers D10S1710 and D10S1741 on chromosome 10q24.32-q25.1. Multipoint linkage analysis generated a maximum logarithm of odds ratio score of 4.79 in the interval D10S1239-D10S1264, which corresponds to 6.35 Mb. More... »

PAGES

338-342

Identifiers

URI

http://scigraph.springernature.com/pub.10.1111/j.0022-202x.2004.23594.x

DOI

http://dx.doi.org/10.1111/j.0022-202x.2004.23594.x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021662197

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15675952


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