Your browser doesn't support javascript.
loading
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola.
Afiliação
  • Di Giosaffatte N; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Ferraris A; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Gaudioso F; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Lodato V; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Savino E; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Celletti C; Physical Medicine and Rehabilitation Division, Umberto I University Hospital of Rome, 00161 Rome, Italy.
  • Camerota F; Physical Medicine and Rehabilitation Division, Umberto I University Hospital of Rome, 00161 Rome, Italy.
  • Bargiacchi S; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Laino L; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Majore S; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Bottillo I; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Genes (Basel) ; 13(12)2022 12 14.
Article em En | MEDLINE | ID: mdl-36553625
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça