J Invest Dermatol 2000 Oct;115(4):694-8
Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, King's College, and St Thomas' Hospitals' Medical School, London, UK.
Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We have studied a multigeneration family of Anglo-Saxon British descent using microsatellite markers to screen candidate loci, including the epidermal differentiation complex on 1q, the keratin gene clusters on chromosomes 12q and 17q and the desmosomal cadherin gene cluster on chromosome 18q. Significant genetic linkage to chromosome 17q was observed using marker D17S 1787, with a maximum two-point LOD score of 4. Read More