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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
Peluso, Francesca; Palazzo, Viviana; Indolfi, Giuseppe; Mari, Francesco; Pasqualetti, Roberta; Procopio, Elena; Nesti, Claudia; Guerrini, Renzo; Santorelli, Filippo; Giglio, Sabrina.
Afiliación
  • Peluso F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Indolfi G; Paediatric and Liver Unit, Meyer Children's University Hospital, Florence, Italy.
  • Mari F; Paediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.
  • Pasqualetti R; Paediatric Ophthalmology Unit, Meyer Children's University Hospital, Florence, Italy.
  • Procopio E; Metabolic and Muscular Unit, Meyer Children's University Hospital of Florence, Florence, Italy.
  • Nesti C; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Guerrini R; Paediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.
  • Santorelli F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Giglio S; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. sabrinar.giglio@unica.it.
BMC Med Genomics ; 14(1): 25, 2021 01 21.
Article en En | MEDLINE | ID: mdl-33478492
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Lisina-ARNt Ligasa Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Lisina-ARNt Ligasa Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia