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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Date Issued
2018
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
Geyer, Matthias
Bertolini, Marta
Kokordelis, Pavlos
Betz, Regina C.
DOI
10.1016/j.ajhg.2018.09.011