The twelfth edition of this classic reference work includes:-More than 2,000 new entries-A
total of more than 9,000 entries-New features and enhancement of the familiar old features-…

Last year marked the 40th anniversary of the publication of the first print edition of Mendelian
Inheritance in Man (MIM). 1 This seems an appropriate juncture at which to review its …

The history of our knowledge of the X chromosome of man is reviewed with appropriate
reference to the contributions made through study of other forms. It is noteworthy that sex-linkage …

… lineage back to McKusick. The first of my many sips from McKusick's seemingly bottomless
… So, we consulted McKusick's landmark text, Mendelian Inheritance in Man, and came upon …

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human
genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion …

… The catalog of X-linked traits in man was first published in 1962 (McKusick, 1962A,B). Two
categories of traits were included—those for which X-linkage was considered proven and …

Clinically, Marfan's disease behaves as an abiotrophy of some connective tissue element.
Cardiovascular manifestations result from defective aortic media, defective valve cusps, …

At the time, Berkeley had only large mainframe computer systems doing batch processing,
so the first order of business was to get a PDP-11/45 suitable for running with the then-current …

IT IS mainly in the last decade that the Hurl-er syndrome (gargoylism) has been iden-tified as
an inborn error of mucopolysaccharide metabolism. Heterogeneity (ie, separa-rate entities …

More than 350 genes have been assigned to specific chromosomes. These include more
than 110 assigned to the X chromosome, more than 240 assigned to specific autosomes, and …