Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ-Desaturase


Nicola Brunetti-Pierri,Gaetano Corso,Massimiliano Rossi,Paola Ferrari,Fiorella Balli,Francesco Rivasi,Ida Annunziata,Andrea Ballabio,Antonio Dello Russo,Generoso Andria,Giancarlo Parenti


The American Journal of Human Genetics




October 2002

Copyright © 2002, Elsevier

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