Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase (Q24616588)
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(P1476) "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase" (language: en)
(P2093) Nicola Brunetti-Pierri
Gaetano Corso
Paola Ferrari
Fiorella Balli
Francesco Rivasi
Ida Annunziata
Antonio Dello Russo
Generoso Andria
Giancarlo Parenti
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