Atlas of X-Linked Intellectual Disability Syndromes

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Inbunden, Engelska, 2026

Av Charles E. Schwartz, Roger E. Stevenson, Tao Wang, Charles E Schwartz, Roger E Stevenson

3 769 kr

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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.

Produktinformation

Utgivningsdatum2026-07-03
Mått216 x 279 x undefined mm
FormatInbunden
SpråkEngelska
Antal sidor600
Upplaga3
FörlagOUP USA
ISBN9780197809020

Tillhör följande kategorier

Medicinsk genetik inom Medicin
Pediatrik inom Medicin
Autism och Aspergers syndrom inom Medicin

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 trainingprograms, 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.

This new 3rd Edition of the Atlas of X-Linked Intellectual Disability Syndromes is a markedly expanded version of the 2 previous editions. The format defines each entity and discusses clinical, neurological, neuropathological, and genetic expression, along with growth and development, clinical photos, and differential diagnosis in a pithy outline format with useful references. There are also many useful appendices, new information regarding methylation signatures (when available) to assist in resolving troublesome VUS findings encountered during gene sequencing, as well as various treatment options, which is a growing body of knowledge. John M Graham Jr MD, ScD Clinical Genetics Consultant, Cedars-Sinai Medical Center, Emeritus Professor of Pediatrics, David Geffen Medical School at UCLA, Los Angeles CA