The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

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 di...

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Veröffentlicht in:	Journal of investigative dermatology 2000-10, Vol.115 (4), p.694-698
Hauptverfasser:	Whittock, Neil V., Ashton, Gabrielle H.S., Eady, Robin A.J., McGrath, John A., Coleman, Carrie M., Irwin McLean, W.H., Acland, K.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 17 Cytoskeletal Proteins - genetics Dermatology Desmoplakins ectodermal dysplasia Ectodermal Dysplasia - genetics Female fingerprints gamma Catenin Genes, Dominant Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Humans Keratins - genetics Male Medical sciences Microsatellite Repeats - genetics Pedigree skin
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