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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka, Paul; Li, Dong; Harr, Margaret H; Wilson, Nathan R; Swarr, Daniel; McCormick, Elizabeth M; Chiavacci, Rosetta M; Li, Mindy; Martinez, Ariel F; Hart, Rachel A; McDonald-McGinn, Donna M; Deardorff, Matthew A; Falk, Marni J; Allanson, Judith E; Hudson, Cindy; Johnson, John P; Saadi, Irfan; Hakonarson, Hakon; Muenke, Maximilian; Zackai, Elaine H.
Afiliación
  • Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Li D; The Center for Applied Genomics, The Children's Hospital of Philadelphia, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Harr MH; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Wilson NR; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, USA.
  • Swarr D; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • McCormick EM; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Chiavacci RM; The Center for Applied Genomics, The Children's Hospital of Philadelphia, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Li M; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Hart RA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • McDonald-McGinn DM; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Deardorff MA; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Falk MJ; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Allanson JE; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Hudson C; Shodair Children's Hospital, Helena, Montana, USA.
  • Johnson JP; Shodair Children's Hospital, Helena, Montana, USA Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts, USA.
  • Saadi I; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, USA.
  • Hakonarson H; The Center for Applied Genomics, The Children's Hospital of Philadelphia, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
J Med Genet ; 52(2): 104-10, 2015 Feb.
Article en En | MEDLINE | ID: mdl-25412741
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoproteínas / Proteínas de Unión al Calcio / Predisposición Genética a la Enfermedad / Esófago / Genes Dominantes / Hipertelorismo / Hipospadias / Proteínas de Microfilamentos / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoproteínas / Proteínas de Unión al Calcio / Predisposición Genética a la Enfermedad / Esófago / Genes Dominantes / Hipertelorismo / Hipospadias / Proteínas de Microfilamentos / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos