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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel, Davor; Ozel, Ayse Bilge; Campbell, Susan E; Saadi, Abdelkrim; Arlt, Martin F; McSweeney, Keisha Melodi; Plaiasu, Vasilica; Szakszon, Katalin; Szollos, Anna; Rusu, Cristina; Rojas, Armando J; Lopez-Valdez, Jaime; Thiele, Holger; Nürnberg, Peter; Nickerson, Deborah A; Bamshad, Michael J; Li, Jun Z; Kubisch, Christian; Glover, Thomas W; Gordon, Leslie B.
Afiliação
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. d.lessel@uke.de.
  • Ozel AB; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Campbell SE; Center for Gerontology and Healthcare Research, Brown University, Providence, RI, USA.
  • Saadi A; Service de neurologie, CHU Ben Aknoun Alger, 2 route des deux Bassins, BenAknoun,, Algers, Algeria.
  • Arlt MF; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • McSweeney KM; Oak Ridge Institute for Science and Education, Office of Biotechnology Products, Center for Drug Evaluation and Research, Food and Drug Administration, 20993, Silver Spring, MD, USA.
  • Plaiasu V; Regional Center of Medical Genetics, Alessandrescu-Rusescu INSMC, Bucharest, Romania.
  • Szakszon K; Department of Pediatrics, University of Debrecen, Debrecen, Hungary.
  • Szollos A; Department of Pediatrics, University of Debrecen, Debrecen, Hungary.
  • Rusu C; Department of Genetics, University Hospital Iasi, Iasi, Romania.
  • Rojas AJ; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.
  • Lopez-Valdez J; Department of Genetics, Centenario Hospital Miguel Hidalgo, Aguascalientes, Mexico.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Nickerson DA; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Bamshad MJ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
  • Li JZ; Department of Genome Sciences, University of Washington, Seattle, USA.
  • Kubisch C; Department of Genome Sciences, University of Washington, Seattle, USA.
  • Glover TW; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Gordon LB; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
Hum Genet ; 137(11-12): 921-939, 2018 Dec.
Article em En | MEDLINE | ID: mdl-30450527
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / Pirrolina Carboxilato Redutases / RNA Polimerase III / Retardo do Crescimento Fetal Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / Pirrolina Carboxilato Redutases / RNA Polimerase III / Retardo do Crescimento Fetal Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha