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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

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Developmental defects
Original article
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

Authors

  • Paul Kruszka Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Dong Li 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 PubMed articlesGoogle scholar articles
  • Margaret H Harr 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 PubMed articlesGoogle scholar articles
  • Nathan R Wilson Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, USA PubMed articlesGoogle scholar articles
  • Daniel Swarr 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 PubMed articlesGoogle scholar articles
  • Elizabeth M McCormick 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 PubMed articlesGoogle scholar articles
  • Rosetta M Chiavacci 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 PubMed articlesGoogle scholar articles
  • Mindy Li 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 PubMed articlesGoogle scholar articles
  • Ariel F Martinez Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Rachel A Hart Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Donna M McDonald-McGinn 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 PubMed articlesGoogle scholar articles
  • Matthew A Deardorff 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 PubMed articlesGoogle scholar articles
  • Marni J Falk 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 PubMed articlesGoogle scholar articles
  • Judith E Allanson Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada PubMed articlesGoogle scholar articles
  • Cindy Hudson Shodair Children's Hospital, Helena, Montana, USA PubMed articlesGoogle scholar articles
  • John P Johnson Shodair Children's Hospital, Helena, Montana, USA Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Irfan Saadi Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, USA PubMed articlesGoogle scholar articles
  • Hakon Hakonarson 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 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
  • Elaine H Zackai 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 PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Elaine H Zackai, Clinical Genetics Center, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA; zackai{at}email.chop.edu
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Citation

Kruszka P, Li D, Harr MH, et al
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
Journal of Medical Genetics 2015;52:104-110.

Publication history

  • Received August 25, 2014
  • Revised October 30, 2014
  • Accepted October 31, 2014
  • First published November 20, 2014.
Online issue publication 
October 22, 2019

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