Ontology highlight
ABSTRACT:
SUBMITTER: Kelsell DP
PROVIDER: S-EPMC1199369 | biostudies-literature | 2005 May
REPOSITORIES: biostudies-literature
Kelsell David P DP Norgett Elizabeth E EE Unsworth Harriet H Teh Muy-Teck MT Cullup Thomas T Mein Charles A CA Dopping-Hepenstal Patricia J PJ Dale Beverly A BA Tadini Gianluca G Fleckman Philip P Stephens Karen G KG Sybert Virginia P VP Mallory Susan B SB North Bernard V BV Witt David R DR Sprecher Eli E Taylor Aileen E M AE Ilchyshyn Andrew A Kennedy Cameron T CT Goodyear Helen H Moss Celia C Paige David D Harper John I JI Young Bryan D BD Leigh Irene M IM Eady Robin A J RA O'Toole Edel A EA
American journal of human genetics 20050308 5
Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. S ...[more]