By Robert P. Erickson, Anthony J. Wynshaw-Boris
This 3rd version of Epstein's Inborn error of improvement provides essays on pathways of improvement and considerate studies of dysmorphic syndromes for which the causative gene has been pointed out. The authors of the chapters on every one affliction have supplied intensive analyses of the function of the gene within the appropriate developmental pathway and the mechanism wherein mutations within the gene reason the developmental pathology.
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Extra resources for Epstein's inborn errors of development : the molecular basis of clinical disorders of morphogenesis
We feel that his chapter stands as an excellent introduction and have added some updates. Erickson and Anthony Wynshaw-Boris. 2 (Jones, 2006; see Chapter 120). 5% are thought to be monogenic in origin, 20% are regarded as multifactorial, and 6% to 7% are caused by known environmental factors such as maternal diseases, infections, and teratogens (Winter, 1996). , 2007). The genetic abnormalities underlying the multiple malformation syndromes can be viewed as a continuum, ranging from mutations of individual genes through the deletion of small numbers of adjoining genes (as in the contiguous gene syndromes) to segmental and whole chromosomal aneuploidy.
2004; see Chapter 148). Similarly, the DiGeorge sequence— with abnormalities of the thymus, parathyroids, and heart and great * Charlie passed away on February 15, 2011, after a prolonged battle with pancreatic cancer. We feel that his chapter stands as an excellent introduction and have added some updates. Erickson and Anthony Wynshaw-Boris. 2 (Jones, 2006; see Chapter 120). 5% are thought to be monogenic in origin, 20% are regarded as multifactorial, and 6% to 7% are caused by known environmental factors such as maternal diseases, infections, and teratogens (Winter, 1996).
Karen Temple, MD The Stowers Institute for Medical Research Kansas City, MO Barts and London School of Medicine and Dentistry, Queen Mary, University of London London, United Kingdom Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southhampton Wessex Clinical Genetics Service, Princess Anne Hospital, Southhampton, United Kingdom Martin Tristani-Firouzi, MD R. Turnpenny, BS, MB, ChB, FRCP, FRCPCH Przemko Tylzanowski, PhD Department of Development and Regeneration, Laboratory for Developmental and Stem Cell Biology, Skeletal Biology and Engineering Research Centre, University of Leuven, Leuven, Belgium; Department of Biochemistry and Molecular, Biology Medical University, Lublin, Poland Melanie Uebelhoer, PhD Laboratory of Human Molecular Genetics, de Duve Institute, Universitécatholique de Louvain, Brussels, Belgium CONTRIBUTORS D.
Epstein's inborn errors of development : the molecular basis of clinical disorders of morphogenesis by Robert P. Erickson, Anthony J. Wynshaw-Boris