Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela

Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela.

Afiliação

Casertano A; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
Fontana P; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale pediatrico Bambino Gesù, Rome, Italy.
Genesio R; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Dieber TB; Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas.
Nitsch L; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
Melis D; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

Am J Med Genet A ; 173(7): 1896-1902, 2017 Jul.

Article em En | MEDLINE | ID: mdl-28462983

Palavras-chave

ZBTB20; dicarboxylic acids; exome sequencing; overgrowth; primrose

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália

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