Mendelian Inheritance in Man
A Catalog of Human Genes and Genetic Disorders
Victor A. McKusick, M.D.
with the Assistance of Stylianos E. Antonarakis, M.D., Clair A. Francomano, M.D., Orest Hurko, M.D., Alan F. Scott, Ph.D., Moyra Smith, M.D., Ph.D., David Valle, M.D., and Others
twelfth edition