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Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

October 2002

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