Atlas of X-Linked Intellectual Disability Syndromes

Rogers, R. Curtis; Schwartz, Charles E.; Stevenson, Roger E.

ISBN 10: 0199811792 / ISBN 13: 9780199811793

Editore: Oxford University Press, Inc., New York, 2012

Riguardo questo articolo

Hardcover. No jacket. Second edition. Superficial marks and light scores on boards. Spine ends are very lightly bumped. Leading corners are very lightly worn. One or two minor marks on page block. Pages are clean and contents are clear throughout. Binding is sound. HJW.

Codice articolo 302648

Dati bibliografici

• Titolo: Atlas of X-Linked Intellectual Disability Syndromes
• Editore: Oxford University Press, Inc., New York
• Data di pubblicazione: 2012
• Lingua: Inglese
• ISBN 10: 0199811792
• ISBN 13: 9780199811793
• Rilegatura: Hardcover
• Edizione: seconda edizione
• Condizione: Very Good
• Condizione della sovraccoperta: No Dust Jacket
• Tipo di libro: Used
• Cataloghi dei venditori:
  • Health & Medicine

Descrizione articolo

Riassunto

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 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. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes.

The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.

Informazioni sull?autore

Roger E. Stevenson, M.D., is a senior clinical geneticist and founder of the Greenwood Genetic Center.

Charles E. Schwartz, Ph.D., is the Director of Research and Head of J.C. Self Research Institute at the Greenwood Genetic Center.

R. Curtis Rogers, M.D., is a senior clinical geneticist at the Greenwood Genetic Center.