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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin, Nadine; Elcioglu, Nursel H; Beleggia, Filippo; Isgüven, Pinar; Altmüller, Janine; Thiele, Holger; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Nürnberg, Peter; Wollnik, Bernd; Yigit, Gökhan.
  • Rosin N; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and.
  • Elcioglu NH; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Turkey.
  • Beleggia F; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and.
  • Isgüven P; Department of Pediatric Endocrinology, Sakarya University Medical Faculty, Sakarya, Turkey and.
  • Altmüller J; Institute of Human Genetics, Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Steindl K; Institute of Medical Genetics, University of Zurich, Zurich-Schlieren, Switzerland.
  • Joset P; Institute of Medical Genetics, University of Zurich, Zurich-Schlieren, Switzerland.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Zurich-Schlieren, Switzerland.
  • Nürnberg P; Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Wollnik B; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and bwollnik@uni-koeln.de.
  • Yigit G; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and.
Hum Mol Genet ; 24(13): 3708-17, 2015 Jul 01.
Article en En | MEDLINE | ID: mdl-25839420
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Estatura / Mutación Puntual / Inestabilidad Genómica / Proteínas de Unión al ADN / Microcefalia Límite: Adolescent / Child / Female / Humans / Infant / Male País como asunto: Asia Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Estatura / Mutación Puntual / Inestabilidad Genómica / Proteínas de Unión al ADN / Microcefalia Límite: Adolescent / Child / Female / Humans / Infant / Male País como asunto: Asia Idioma: En Año: 2015 Tipo del documento: Article