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LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
Morlino, Silvia; Alesi, Viola; Calì, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar.
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  • Morlino S; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Alesi V; Laboratory of Medical Genetics, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
  • Calì F; Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
  • Lepri FR; Laboratory of Medical Genetics, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
  • Secinaro A; Division of Radiology, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
  • Drago F; Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
  • Baban A; Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
Am J Med Genet A ; 179(1): 104-112, 2019 01.
Article en En | MEDLINE | ID: mdl-30565850
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glaucoma / Proteínas de Unión a TGF-beta Latente / Cardiopatías Congénitas / Síndrome de Marfan Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glaucoma / Proteínas de Unión a TGF-beta Latente / Cardiopatías Congénitas / Síndrome de Marfan Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia