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Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
McInerney-Leo, Aideen M; Wheeler, Lawrie; Marshall, Mhairi S; Anderson, Lisa K; Zankl, Andreas; Brown, Matthew A; Leo, Paul J; Wicking, Carol; Duncan, Emma L.
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  • McInerney-Leo AM; Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
  • Wheeler L; The University of Queensland Diamantina Institute, University of Queensland, Brisbane, Queensland, Australia.
  • Marshall MS; Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
  • Anderson LK; Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
  • Zankl A; Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
  • Brown MA; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia.
  • Leo PJ; Academic Department of Medical Genetics, Sydney Children's Hospital Network (Westmead), Sydney, Australia.
  • Wicking C; Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
  • Duncan EL; Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
Am J Med Genet A ; 173(6): 1698-1704, 2017 Jun.
Article en En | MEDLINE | ID: mdl-28422394
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Síndrome de Ellis-Van Creveld / Proteínas Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Síndrome de Ellis-Van Creveld / Proteínas Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos