Bi-allelic mutations in LSS, encoding lanosterol synthase, cause
   autosomal-recessive hypotrichosis simplex

Document type:: Meeting Abstract
Author(s):: Romano, M.; Tafazzoli, A.; Mattern, M.; Sivalingam, S.; Wolf, S.; Rupp, A.; Thiele, H.; Altmueller, J.; Nuernberg, P.; Ellwanger, J.; Gambon, R.; Baumer, A.; Kohlschmidt, N.; Metze, D.; Holdenrieder, S.; Paus, R.; Luetjohann, D.; Frank, J.; Geyer, M.; Bertolini, M.; Kokordelis, P.; Betz, R. C.
Title:: Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex
Journal title abbreviation:: Eur J Hum Genet
Year:: 2019
Journal volume:: 27
Pages contribution:: 1282-1283
Print-ISSN:: 1018-4813
TUM Institution:: Institut für Laboratoriumsmedizin (keine SAP-Zuordnung!)
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