Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ(5)-Desaturase

We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis. This patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. In the patient’s plasma and cells, we fou...

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Autori principali: Brunetti-Pierri, Nicola, Corso, Gaetano, Rossi, Massimiliano, Ferrari, Paola, Balli, Fiorella, Rivasi, Francesco, Annunziata, Ida, Ballabio, Andrea, Russo, Antonio Dello, Andria, Generoso, Parenti, Giancarlo
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2002
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC378549/
https://ncbi.nlm.nih.gov/pubmed/12189593
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