Charles E Schwartz, Roger E Stevenson, Tao Wang

Gebundenes Buch

Atlas of X-Linked Intellectual Disability Syndromes

Beschreibung

Atlas of X-Linked Intellectual Disability Syndromes, 3rd Edition is a comprehensive reference for clinicians, laboratory geneticists, and researchers working to diagnose and understand X-linked intellectual disability (XLID). This updated edition presents a concise yet thorough overview of all known XLID syndromes, incorporating the latest clinical findings and gene discoveries. 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.

Autor

Charles E. Schwartz, Ph.D - As research fellow at the Department of Haematology at University of Utah, Dr. Schwartz laid the groundwork for the discovery of both breast and colon cancer genes. He established the molecular genetics laboratory at the Greenwood Genetic Center in 1985. Until his retirement in May 2019, Dr. Schwartz's research interests focused on the causes of intellectual disabilities (ID) and autism. Besides identifying over 27 XLID genes, his group established abnormal tryptophan metabolism as one feature associated with ASD. He is currently an Adjunct Professor in the Department of Pediatrics and Human Development at Michigan State University, Grand Rapids. 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.

Produktdetails

• Verlag: Oxford University Press
• 3rd edition
• Seitenzahl: 600
• Erscheinungstermin: 17. April 2026
• Englisch
• ISBN-13: 9780197809020
• ISBN-10: 0197809022
• Artikelnr.: 75857812