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A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova, Katarina; Garavelli, Livia; Caraffi, Stefano Giuseppe; Peluso, Francesca; Valeri, Lara; Gargano, Giancarlo; Gavioli, Sara; Trimarchi, Gabriele; Neri, Alberto; Campos-Xavier, Belinda; Superti-Furga, Andrea.
Afiliação
  • Cisarova K; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Garavelli L; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Caraffi SG; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Peluso F; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Valeri L; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Gargano G; Neonatal Intensive Care Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Gavioli S; Neonatal Intensive Care Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Trimarchi G; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Neri A; Ophthalmology Unit, Department of Surgery, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Am J Med Genet A ; 188(1): 319-325, 2022 01.
Article em En | MEDLINE | ID: mdl-34580982
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteínas de Transporte Vesicular Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteínas de Transporte Vesicular Idioma: En Ano de publicação: 2022 Tipo de documento: Article