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Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota, Letizia; Ritelli, Marco; Wischmeijer, Anita; Majore, Silvia; Cinquina, Valeria; Fortugno, Paola; Monetta, Rosanna; Gigante, Laura; Sangiuolo, Federica Carla; Novelli, Giuseppe; Colombi, Marina; Brancati, Francesco.
Afiliación
  • Camerota L; Human Genetics Institute, Department of Life, Health, and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy. letizia.camerota@guest.univaq.it.
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marco.ritelli@unibs.it.
  • Wischmeijer A; Clinical Genetics Unit, Department of Pediatrics, Regional Hospital of Bolzano, 39100 Bolzano, Italy. rosanna.monetta@graduate.univaq.it.
  • Majore S; Medical Genetics Laboratory, Department of Molecular Medicine, Sapienza University, 00185 Rome, Italy. valeria.cinquina1@unibs.it.
  • Cinquina V; San Camillo-Forlanini Hospital, 00152 Rome, Italy. valeria.cinquina1@unibs.it.
  • Fortugno P; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. titiaanita.wischmeijer@sabes.it.
  • Monetta R; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy. smajore@scamilloforlanini.rm.it.
  • Gigante L; Human Genetics Institute, Department of Life, Health, and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy. p.fortugno@idi.it.
  • Marfan Syndrome Study Group Tor Vergata University Hospital; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy. p.fortugno@idi.it.
  • Sangiuolo FC; Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy. laura.gigante84@gmail.com.
  • Novelli G; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, 00133 Rome, Italy. laura.gigante84@gmail.com.
  • Colombi M; Human Genetics Institute, Department of Life, Health, and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy. sangiuolo@med.uniroma2.it.
  • Brancati F; Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy. novelli@med.uniroma2.it.
Genes (Basel) ; 10(10)2019 09 28.
Article en En | MEDLINE | ID: mdl-31569402

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Loeys-Dietz Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Revista: Genes (Basel) Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Loeys-Dietz Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Revista: Genes (Basel) Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza