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Document type:
journal article 
Author(s):
Romano, Maria-Teresa; Tafazzoli, Aylar; Mattern, Maximilian; Sivalingam, Sugirthan; Wolf, Sabrina; Rupp, Alexander; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Ellwanger, Jürgen; Gambon, Reto; Baumer, Alessandra; Kohlschmidt, Nicolai; Metze, Dieter; Holdenrieder, Stefan; Paus, Ralf; Lütjohann, Dieter; Frank, Jorge; Geyer, Matthias; Bertolini, Marta; Kokordelis, Pavlos; Betz, Regina C 
Title:
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 
Abstract:
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although research has identified a number of causal genes, genetic etiology in about 50% of HS cases remains unknown. The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS. Affected individuals showed sp...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2018 
Journal volume:
103 
Journal issue:
Pages contribution:
777-785 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Institut für Laboratoriumsmedizin