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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA.
  • Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Lugtenberg D; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
  • Zhu W; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
  • Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Schoots J; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
  • de Munnik SA; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
  • Roepman R; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
  • Pearring JN; Department of Ophthalmology, Duke University Medical Center, Durham, NC 27701, USA.
  • Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Vissers LE; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
  • Brunner HG; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
  • Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA.
  • Bongers EM; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Electronic address: ernie.bongers@radboudumc.nl.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA. Electronic address: yapingy@bcm.edu.
Am J Hum Genet ; 97(6): 904-13, 2015 Dec 03.
Article en En | MEDLINE | ID: mdl-26637980
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Rótula / Enanismo / Geminina / Microtia Congénita / Trastornos del Crecimiento / Micrognatismo / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Rótula / Enanismo / Geminina / Microtia Congénita / Trastornos del Crecimiento / Micrognatismo / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article