Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.

Autor: Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Thomas J; Dermatology Department, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India., Panicker VV; Dermatology Department, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India., Alawi M; University Medical Center Hamburg-Eppendorf, Bioinformatics Core, Hamburg, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Jazyk: angličtina
Zdroj: The British journal of dermatology [Br J Dermatol] 2018 Nov; Vol. 179 (5), pp. 1192-1194. Date of Electronic Publication: 2018 Aug 12.
DOI: 10.1111/bjd.16912
Databáze: MEDLINE