KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - CONFIRMATION OF LINKAGE TO XP22.13-P22.2

Citation
Mem. Porteous et al., KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - CONFIRMATION OF LINKAGE TO XP22.13-P22.2, Journal of Medical Genetics, 35(4), 1998, pp. 336-337
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
35
Issue
4
Year of publication
1998
Pages
336 - 337
Database
ISI
SICI code
0022-2593(1998)35:4<336:KSD-CO>2.0.ZU;2-H
Abstract
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement: (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p 23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oo sterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candi date interval for the KFSD locus.