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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.
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