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ZUFFARDI , Orsetta

Last name: ZUFFARDI

First name: Orsetta

2014 (v1)

Publication

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Periventricular nodular heterotopia in Smith-Magenis syndrome

Capra, Valeria BIANCHERI, ROBERTA MORANA, GIOVANNI

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Uploaded on: April 14, 2023
March 2012 (v1)

Journal article

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Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Salviati, Leonardo Trevisson, Eva Rodriguez Hernandez, Maria Angeles

BACKGROUND: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ4, the patient was screened for CoQ(10)...

Uploaded on: December 3, 2022