Ontology highlight
ABSTRACT:
SUBMITTER: Shah K
PROVIDER: S-EPMC6094939 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Shah Khadim K Mehmood Sabba S Jan Abid A Abbe Izoduwa I Hussain Ali Raja R Khan Anwar A Chishti Muhammad S MS Lee Kwanghyuk K Ahmad Farooq F Ansar Muhammad M Shahzad Shaheen S Nickerson Deborah A DA Bamshad Michael J MJ Coucke Paul J PJ Santos-Cortez Regie L P RLP Spritz Richard A RA Leal Suzanne M SM Ahmad Wasim W
International journal of dermatology 20171201 12
<h4>Background</h4>Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.<h4>Methods</h4>Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families.<h4>Results</h4>Exome sequencing identified seven homozygous sequence variants in differ ...[more]