Mendelian inheritance in man : a catalog of human genes and genetic disorders / Victor A. McKusick ; with the assistance of Stylianos E. Antonarakis ... [and others].
"The principal source of information on inherited diseases for all clinical geneticists... In addition to the erudite entries in the books, the references given with each description represent a magnificent bibliography of clinical genetics. With McKusick's leadership and continued interest in gene mapping, the book also represents an important compendium of the location of genes on specific chromosomes." -- New England Journal of Medicine