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A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Álvarez, Luis Francisco González; Tenorio-Castaño, Jair; Poletta, Fernando A; Santos-Simarro, Fernando; Arias, Pedro; Gallego, Natalia; Orioli, Iêda Maria; Mundlos, Stefan; Castilla, Eduardo E; Martínez-Glez, Víctor; Martínez-Frías, María Luisa; Ruiz-Pérez, Víctor L; Nevado, Julián; Lapunzina, Pablo.
  • Álvarez LFG; Centro de Salud Area 6, Madrid, Spain.
  • Tenorio-Castaño J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Poletta FA; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • Santos-Simarro F; ITHACA, European Reference Network, Brussels, Belgium.
  • Arias P; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.
  • Gallego N; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.
  • Orioli IM; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Mundlos S; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Castilla EE; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • Martínez-Glez V; ITHACA, European Reference Network, Brussels, Belgium.
  • Martínez-Frías ML; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Ruiz-Pérez VL; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Lapunzina P; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
Am J Med Genet A ; 191(1): 100-107, 2023 01.
Article en En | MEDLINE | ID: mdl-36308343
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polidactilia / Proteínas de la Membrana Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polidactilia / Proteínas de la Membrana Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article