Atlas of X-linked Intellectual Disability Syndromes
Language: English
Published by Oxford University Press, 2026
- Hardcover
- New
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- Title
- Atlas of X-linked Intellectual Disability Syndromes
- Author
- Schwartz, Charles E.; Stevenson, Roger E.; Wang, Tao
- Publisher
- Oxford University Press
- Publication year
- 2026
- Condition
- New
- Binding
- Hardcover
- Language
- English
- ISBN 10
- 0197809022
- ISBN 13
- 9780197809020
- Edition
- 3rd Edition
Each syndrome entry includes hallmark somatic features, developmental and neurological characteristics, patterns of female expression, and the causative gene if known. A differential diagnosis matrix that follows each entry helps narrow diagnostic possibilities and guides targeted genetic testing. Appendices group syndromes by shared clinical features, offering a practical tool for comparison.
New content in this edition addresses duplications within the X chromosome involving XLID genes, XLID-associated Congenital Disorders of Glycosylation, skewed X-inactivation in female carriers, and genes that escape inactivation. The XLID Syndrome Atlas remains an essential tool for navigating the evolving genetics of intellectual disability.
"Synopsis" may belong to another edition of this title.
About the Author
Roger E. Stevenson, M.D. - In 1974, Dr. Stevenson left a faculty position at the University of Texas Medical School in Houston to return to his home state of South Carolina to establish the Greenwood Genetic Center. In its 50 years, the GGC has become the state's premier genetic institution with medical genetics training
programs, clinics, diagnostic laboratories, and research program. Stevenson's career has been focused on birth defects, intellectual disability, autism, and related disorders. He established the South Carolina Neural Tube Defect Surveillance and Prevention Program in 1992, and has collaborated with Charles Schwartz in Research on X-linked intellectual disabilities since 1985.
Tao Wang, M.D., Ph.D.- Dr. Wang is a pediatric and biochemical geneticist, and physician scientist in the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Dr. Wang's clinical and research interests center around understanding genetic basis and mechanism of developmental brain disorders including X-linked intellectual disability and autism, and inborn errors of metabolism including phenylketonuria and gyrate atrophy of the choroid and retina. In collaboration with Drs. Stevenson and Schwartz of Greenwood Genetic Center, Dr. Wang's research team has contributed to clinical,
genetic, and/or functional characterization of over 20 X-linked intellectual disability genes.
"About the title" may belong to another edition of this title.
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