Home > Books > X-Linked Mental Retardation
X-Linked Mental Retardation
View PDF

X-Linked Mental Retardation

Publication Year: 2000
Edition: 1st
Authors/Editor: Stevenson, Roger E.; Schwartz, Charles E.; Schroer, Richard J.
Publisher: Oxford University Press (OUP)
ISBN: 978-0-195-12981-6
  • Description
  • Details

This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome.

Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed. X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.

  • Platform:
    Ovid
  • Publisher: Oxford University Press (OUP)
  • Product Type: Book
  • Author/Editor: Stevenson, Roger E.; Schwartz, Charles E.; Schroer, Richard J.
  • ISBN: 978-0-195-12981-6
  • Specialty:
    Medical Genetics
    Neurology
    Psychiatry
  • Language: English
  • Edition: 1st
  • Pages: 440
  • Illustrations: 117
  • Year: 2000

Free Instant Access
This Month

JOTM
Embase® The Embase database is the most trusted source of global, evidence-based pharmacological and biomedical research with over 30 million bibliographic records dating back to 1947.
JOTM
Visible Body Heart & Circulatory Premium This interactive 3D Atlas is a deep dive into the heart and circulatory system for learning, reference, and patient education.
JOTM
Circulation Research Presents peer-reviewed reports on research advances in biology, biochemistry, biophysics, cellular and molecular biology, morphology, pathology, physiology, and pharmacology.
JOTM
Regional Anesthesia & Pain Medicine Publishes peer-reviewed scientific and clinical studies to advance the understanding and application of regional techniques for surgical anesthesia and postoperative analgesia.

Noteworthy

Doody's Featured Books
Manual of Valvular Heart Disease
Portable and clinically oriented, this full-color handbook is a unique and timely guide to valvular heart disease and percutaneous coronary interventions.

Khonsari's Cardiac Surgery: Safeguards and Pitfalls in Operative Technique
Details the most important techniques in a concise, readable, and richly illustrated format, with a focus on avoiding and managing surgical pitfalls and complications.