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A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

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Title: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Authors: Álvarez LFG; Centro de Salud Area 6, Madrid, Spain., Tenorio-Castaño J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Poletta FA; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil., Santos-Simarro F; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Orioli IM; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil., Mundlos S; Institute of Medical and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany., Castilla EE; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil., Martínez-Glez V; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Martínez-Frías ML; ECEMC, Estudio Colaborativo Español de Malformaciones Congénitas and CIAC, ISCIII, Madrid, Spain., Ruiz-Pérez VL; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Instituto de Investigaciones Biomédicas Alberto Sols, IIB-UAM, Madrid, Spain., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 100-107. Date of Electronic Publication: 2022 Oct 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
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  Data: <searchLink fieldCode="AU" term="%22Álvarez+LFG%22">Álvarez LFG</searchLink>; Centro de Salud Area 6, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Tenorio-Castaño+J%22">Tenorio-Castaño J</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Poletta+FA%22">Poletta FA</searchLink>; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Arias+P%22">Arias P</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gallego+N%22">Gallego N</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Orioli+IM%22">Orioli IM</searchLink>; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.<br /><searchLink fieldCode="AU" term="%22Mundlos+S%22">Mundlos S</searchLink>; Institute of Medical and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Castilla+EE%22">Castilla EE</searchLink>; ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation), Buenos Aires, Argentina.; ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.<br /><searchLink fieldCode="AU" term="%22Martínez-Glez+V%22">Martínez-Glez V</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Martínez-Frías+ML%22">Martínez-Frías ML</searchLink>; ECEMC, Estudio Colaborativo Español de Malformaciones Congénitas and CIAC, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz-Pérez+VL%22">Ruiz-Pérez VL</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.; Instituto de Investigaciones Biomédicas Alberto Sols, IIB-UAM, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Nevado+J%22">Nevado J</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Lapunzina+P%22">Lapunzina P</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 100-107. <i>Date of Electronic Publication: </i>2022 Oct 29.
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