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Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.
Gao, Jian; McClenaghan, Conor; Christiaans, Imke; Alders, Marielle; van Duinen, Kirsten; van Haelst, Mieke M; van Haaften, Gijs; Nichols, Colin G.
Afiliação
  • Gao J; Department of Cell Biology and Physiology and Center for the Investigation of Membrane Excitability Diseases, Washington University in St. Louis, St. Louis, MO, USA.
  • McClenaghan C; Department of Cell Biology and Physiology and Center for the Investigation of Membrane Excitability Diseases, Washington University in St. Louis, St. Louis, MO, USA.
  • Christiaans I; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Alders M; University of Amsterdam, Department of Human Genetics, Meibergdreef 9, Amsterdam, The Netherlands.
  • van Duinen K; Department of Dermatology, Nij Smellinghe Hospital, Drachten, The Netherlands.
  • van Haelst MM; University of Amsterdam, Department of Human Genetics, Meibergdreef 9, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.
  • van Haaften G; Departments of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.
  • Nichols CG; Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.
Eur J Hum Genet ; 31(2): 188-194, 2023 02.
Article em En | MEDLINE | ID: mdl-36336713
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Hipertricose / Linfedema Tipo de estudo: Diagnostic_studies Limite: Animals Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Hipertricose / Linfedema Tipo de estudo: Diagnostic_studies Limite: Animals Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido