Ontology highlight
ABSTRACT:
SUBMITTER: Oosterwijk JC
PROVIDER: S-EPMC1051677 | biostudies-other | 1995 Sep
REPOSITORIES: biostudies-other
Oosterwijk J C JC van der Wielen M J MJ van de Vosse E E Voorhoeve E E Bakker E E
Journal of medical genetics 19950901 9
X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. An ...[more]