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Phenotypes
Original article
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

Authors

  • Kelly A Bear Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USADepartment of Pediatrics, Tripler Army Medical Center, Honolulu, Hawaii, USA PubMed articlesGoogle scholar articles
  • Benjamin D Solomon Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USADivision of Medical Genomics, Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia, USADepartment of Pediatrics, Inova Children's Hospital, Inova Health System, Falls Church, Virginia, USA PubMed articlesGoogle scholar articles
  • Sonir Antonini Department of Pediatrics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil PubMed articlesGoogle scholar articles
  • Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil PubMed articlesGoogle scholar articles
  • Marcela M França Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil PubMed articlesGoogle scholar articles
  • Erica H Gerkes Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Dorothy K Grange Washington University Schl Mdcn, St. Louis, Missouri, USA PubMed articlesGoogle scholar articles
  • Donald W Hadley Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Jarmo Jääskeläinen Department of Pediatrics, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland PubMed articlesGoogle scholar articles
  • Sabrina S Paulo Department of Pediatrics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil PubMed articlesGoogle scholar articles
  • Patrick Rump Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Constantine A Stratakis Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Elizabeth M Thompson SA Pathology, South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Mary Willis Department of Pediatrics, Clinical Genetics, Naval Medical Center, San Diego, California, USA PubMed articlesGoogle scholar articles
  • Thomas L Winder Prevention Genetics, Marshfield, Wisconsin, USA PubMed articlesGoogle scholar articles
  • Alexander A L Jorge Unidade de Endocrinologia Genética, LIM/25, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil PubMed articlesGoogle scholar articles
  • Erich Roessler Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Maximilian Muenke Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Maximilian Muenke, Medical Genetics Branch, National Human Genome Research Institute, 35 Convent Drive, Building 35, Room 1B-203, Bethesda, MD 20892-3717, USA; mamuenke{at}mail.nih.gov
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Citation

Bear KA, Solomon BD, Antonini S, et al
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Journal of Medical Genetics 2014;51:413-418.

Publication history

  • Received December 22, 2013
  • Revised March 4, 2014
  • Accepted March 7, 2014
  • First published April 17, 2014.
Online issue publication 
February 25, 2018

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