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Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q(10) deficiency

We report a detailed clinical examination in a patient with primary coenzyme Q(10) deficiency caused by biallelic mutations in the PDSS1 gene who presented clinical features of mitochondrial encephalopathy associated with pulmonary hypertension, livedo reticularis and particularly, chronic distal ph...

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Detalles Bibliográficos
Autores principales:	Bellusci, Marcello, García‐Silva, Maria Teresa, Martínez de Aragón, Ana, Martín, Miguel Angel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Images in Metabolic Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574184/ https://www.ncbi.nlm.nih.gov/pubmed/34765390 http://dx.doi.org/10.1002/jmd2.12216

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