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Research Article
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
  1. M E Porteous,
  2. L Strain,
  3. L J Logie,
  4. R M Herd,
  5. E C Benton
  1. Human Genetics Unit, Western General Hospital, Edinburgh, UK.

    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-p23 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 Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.

    https://doi.org/10.1136/jmg.35.4.336

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