Your browser doesn't support javascript.
loading
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Storoni, Silvia; Celli, Luca; Zhytnik, Lidiia; Maasalu, Katre; Märtson, Aare; Kõks, Sulev; Khmyzov, Sergey; Pashenko, Andrei; Maugeri, Alessandra; Zambrano, Anna; Celli, Mauro; Eekhoff, Elisabeth M W; Micha, Dimitra.
Afiliação
  • Storoni S; Department of Internal Medicine Section Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Rare Bone Disease Center Amsterdam, ERN BOND, Amsterdam, the Netherlands; Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam, the Nether
  • Celli L; Department of Internal Medicine Section Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Rare Bone Disease Center Amsterdam, ERN BOND, Amsterdam, the Netherlands.
  • Zhytnik L; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; University of Tartu, Department of Traumatology and Orthopaedics, Tartu, Estonia.
  • Maasalu K; University of Tartu, Department of Traumatology and Orthopaedics, Tartu, Estonia; Tartu University Hospital, Clinic of Traumatology and Orthopaedics, Tartu, Estonia.
  • Märtson A; University of Tartu, Department of Traumatology and Orthopaedics, Tartu, Estonia; Tartu University Hospital, Clinic of Traumatology and Orthopaedics, Tartu, Estonia.
  • Kõks S; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA, Australia; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
  • Khmyzov S; Sytenko Institute of Spine and Joint Pathology, National Academy of Medical Science of Ukraine, Kharkiv, Ukraine.
  • Pashenko A; Sytenko Institute of Spine and Joint Pathology, National Academy of Medical Science of Ukraine, Kharkiv, Ukraine.
  • Maugeri A; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Zambrano A; Center for Rare Diseases and Skeletal Dysplasias, Sapienza University of Rome, Italy.
  • Celli M; Center for Rare Diseases and Skeletal Dysplasias, Sapienza University of Rome, Italy. Electronic address: mauro.celli@uniroma1.it.
  • Eekhoff EMW; Department of Internal Medicine Section Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Rare Bone Disease Center Amsterdam, ERN BOND, Amsterdam, the Netherlands; Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam, the Nether
  • Micha D; Rare Bone Disease Center Amsterdam, ERN BOND, Amsterdam, the Netherlands; Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Eur J Med Genet ; 66(11): 104857, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37758164
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article