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McKusick's exhaustive compendium of genetically determined diseases, disorders, syndromes, and other clinical constellations continues with the same format in this edition as in the previous six: each entry includes an exhaustive but concise summary of what is known about the phenotype and reference to the literature on which the summary is based. Entries deleted or reassigned since the last edition and the new entries are listed by numeric identifier in two short appendixes. McKusick's massive catalog remains a basic and central reference work for all physicians with the slightest special interest in genetic disorders of clinical importance.
Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.. Ann Intern Med. 1987;106:492. doi: https://doi.org/10.7326/0003-4819-106-3-492_1
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Published: Ann Intern Med. 1987;106(3):492.
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