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Atlas of X-Linked Intellectual Disability Syndromes [Print Replica] [Kindle Edition]

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

Print List Price: £97.00
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  • Print Replica:
    This Kindle book looks just like the printed book
  • Print ISBN-10: 0199811792
  • Print ISBN-13: 978-0199811793
  • Edition: 2
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Book Description

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.

Product Description

About the Author

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.

Product details

  • Format: Kindle Edition
  • File Size: 11315 KB
  • Print Length: 368 pages
  • Publisher: Oxford University Press; 2 edition (30 May 2012)
  • Sold by: Amazon Media EU S.à r.l.
  • Language: English
  • ASIN: B00FOU7XC4
  • Text-to-Speech: Not enabled
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  • Amazon Bestsellers Rank: #1,365,719 Paid in Kindle Store (See Top 100 Paid in Kindle Store)
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Amazon.com: 5.0 out of 5 stars  2 reviews
5.0 out of 5 stars Perfect Atlas for Clinical Genetics Practice 29 Oct. 2013
By Hector Yuri Conti Wanderley - Published on Amazon.com
Format:Hardcover|Verified Purchase
Atlas of X-Linked Intellectual Disability Syndromes offers a detailed view of the main differential diagnosis of X-linked Intellectual Disability Syndromes.
5.0 out of 5 stars excelent clinical reference 30 Sept. 2012
By marleo - Published on Amazon.com
Format:Hardcover|Verified Purchase
i think it is really an excelent reference textbook for clinitian working in genetics. it contains an update references as will as new syndromes.
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