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Developmental Disabilities

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Molecular Pathology in Clinical Practice

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Abstract

Although the classic childhood phenotypes of many developmental disorders have been established for some time, only in the past decade have the genetic etiologies of some of these disorders been identified. Investigations of the molecular basis of these conditions have resulted in the identification of new genes, leading to insights into the function of new proteins and biochemical pathways. In addition, genetic mechanisms previously unknown in humans, such as genomic imprinting, uniparental disomy, expansion of trinucleotide repeats, and facilitation of deletions and duplications by low-copy repeats, were recognized as the causes of some of these conditions.

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Author information

Authors and Affiliations

  1. Center for Genetic Testing, Saint Francis Health System, Tulsa, OK, 74105, USA

    Nancy J. Carpenter PhD (Laboratory Director)

  2. Genetic Diagnostic Laboratory, TC Thompson Children’s Hospital, Chattanooga, TN, 37403, USA

    Kristin May PhD (Laboratory Director)

  3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA

    Benjamin Roa PhD (Assistant Professor)

  4. Fullerton Genetics Center Laboratory, Mission Hospitals, Asheville, NC, 28803, USA

    Jack Tarleton PhD (Director)

Authors
  1. Nancy J. Carpenter PhD
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  2. Kristin May PhD
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  3. Benjamin Roa PhD
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  4. Jack Tarleton PhD
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Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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© 2007 Springer Science+Business Media, LLC

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Carpenter, N.J., May, K., Roa, B., Tarleton, J. (2007). Developmental Disabilities. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_6

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  • DOI: https://doi.org/10.1007/978-0-387-33227-7_6

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-33226-0

  • Online ISBN: 978-0-387-33227-7

  • eBook Packages: MedicineMedicine (R0)

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