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
CAB Abstracts The most comprehensive database for applied life sciences, CAB Abstracts gives researchers instant access to over 8.4 million records, with over 360,000 abstracts added each year.
JOTM
Evidence-Based Medicine Reviews (EBMR) A definitive resource for electronic information in the evidence based medicine movement that combines the most trusted resources into a single, fully-searchable database.
JOTM
Continuum: Lifelong Learning in Neurology Helps practicing neurologists to improve patient care, stay abreast of advances in neurology, and develop lifelong, self-directed learning and critical thinking skills.
JOTM
Journal of Healthcare Management Offers timely articles that inform and guide executives, managers, educators, and researchers. It contains regular columns by experts and practitioners on trending topics.

Noteworthy

Doody's Featured Books
The 5-Minute Clinical Consult 2019
A practical, highly organized resource for clinicians in primary care, family medicine, emergency medicine, nursing, and pediatrics. Provides rapid access to guidance on diagnosis, treatment, medications, follow-up, and associated factors for more than 540 diseases and conditions.

Evidence-Based Geriatric Nursing Protocols for Best Practice
This new edition of one of the premier references for geriatric nurses in hospital, long-term, and community settings delivers current guidelines, real-life case studies, and evidence-based protocols developed by master educators and practitioners.