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Book Review: American Journal of Medical Genetics 77:338-339 (1998)
Book Review: American Journal of Medical Genetics 77:338-339 (1998)
Book Review: American Journal of Medical Genetics 77:338-339 (1998)
Book Review
ics topics, this is probably not the best resource. Of the data on FGF receptor mutations and the resulting vari-
four major categories of genetic diseases (chromosomal ous forms of dwarfism and craniosynostosis, with sci-
abnormalities, mitochondrial diseases, single-gene dis- entific references and a website connection. At the web-
orders and multifactorial disorders), this book does not site, additional clinical information, more details, and
address the first two at all, except to discuss (and give additional references are given about the clinical mani-
recent references for advances on) the mechanisms of festations of these receptor mutations in humans, in-
chromosomal segregation in meiosis and to state that cluding figures showing the locations of mutations on
virtually all mitochondria are maternal in origin. the receptors linked with specific syndromes.
Single-gene and multifactorial disorders are discussed We contend that, although this book and website are
only in cases where an overt phenotypic change in em- not directed at this audience, they fill a niche for ref-
bryonic morphology can be observed and the mecha-
erence, review, or continuing education for researchers
nism for this change has been hypothesized based on
and clinicians interested in mechanisms and regula-
animal experimentation. For example, of 20 common
single-gene disorders listed in Table 1-1 of Jorde, Carey tion of developmental processes. Although one can get
and White’s Medical Genetics (1995, Mosby-Year Book, a feel for the usefulness of this resource by contacting
Inc., St. Louis, Missouri), only thalassemia (alpha) is the website alone, the combination of the clear, de-
included in the index, although several dozen other hu- tailed, molecular and morphological descriptions in the
man diseases are listed. For this audience the strength text, along with text/website presentations of clinical
of this book is not as a place to look up the clinical relevance, work in combination to provide an excellent
manifestations of known human diseases, but rather to and up-to-date resource.
review the developmental mechanisms affected in hu-
man disorders or to get insight into possible candidate
genes based on expression patterns and experimental Diana K. Darnell
results in other animals. Thus, one can look up a de- Gary C. Schoenwolf
velopmental mechanism (e.g., osteogenesis) to find a Department of Neurobiology and Anatomy
clear, detailed review of the molecular and morphologi- University of Utah School of Medicine
cal interactions involved in bone formation, as well as Salt Lake City, Utah