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April 21, 1993

Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

Author Affiliations

University of Washington School of Medicine Seattle

JAMA. 1993;269(15):2003-2004. doi:10.1001/jama.1993.03500150115041

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A major reference work that first appeared in 1966 has been published in its tenth edition. For the first time, the book appears in two volumes. Volume 1 consists of introductory material (219 pages) and 1170 pages dealing with autosomal dominant inheritance. Volume 2 covers autosomal recessive and X-linked phenotypes (814 pages) and includes an extensive author and subject index (216 pages).

McKusick and his colleagues, Francomano and Antonarakis, list all traits and diseases transmitted by single-gene inheritance. McKusick's catalog is integrated with the Genome Data Base. While GDB deals with gene mapping, DNA markers, and probe availability, McKusick's catalog and its frequently updated computerized version (OMIM—Online Mendelian Inheritance in Man—via Sprintnet or Internet, part of the Welch Medical Library, Johns Hopkins University, telephone [410] 955-7058) provide information on clinical and phenotypic aspects and mapping of expressed genes.

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