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A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Torraco, Alessandra; Morlino, Silvia; Rizza, Teresa; Di Nottia, Michela; Bottaro, Giorgia; Bisceglia, Luigi; Montanari, Arianna; Cappa, Marco; Castori, Marco; Bertini, Enrico; Carrozzo, Rosalba.
Afiliação
  • Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Morlino S; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Rizza T; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bottaro G; Endocrinology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Bisceglia L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Montanari A; Department of Biology and Biotechnologies "C. Darwin", Sapienza University of Rome, Rome, Italy.
  • Cappa M; Endocrinology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Bertini E; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Clin Genet ; 102(1): 56-60, 2022 07.
Article em En | MEDLINE | ID: mdl-35246835
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Nanismo / Hipoglicemia Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Nanismo / Hipoglicemia Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article