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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62994 |
