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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Royer-Bertrand, Beryl; Lebon, Sébastien; Craig, Ailsa; Maeder, Johanna; Mittaz-Crettol, Laureane; Fodstad, Heidi; Superti-Furga, Andrea; Good, Jean-Marc.
Afiliação
  • Royer-Bertrand B; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Lebon S; Unit of Pediatric Neurology and Neurorehabilitation, Department of Pediatrics, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Craig A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Maeder J; Unit of Pediatric Neurology and Neurorehabilitation, Department of Pediatrics, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Mittaz-Crettol L; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Fodstad H; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
Am J Med Genet A ; 191(6): 1658-1663, 2023 06.
Article em En | MEDLINE | ID: mdl-36905089
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Paraparesia Espástica Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Paraparesia Espástica Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça