Monogenic disorders.
Open Access
- 1 October 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (5), 316-320
- https://doi.org/10.1136/jmg.14.5.316
Abstract
A review of the monogenic disorders affecting man is presented and an approach for registry of such diseases is recommended. This involves collating studies of the frequencies of individual conditions which have been carried out by individual workers with a special interest in the condition using all possible means of ascertainment. Most of the surveys included in this study come from northwest European populations. The total birth frequencies of presently known serious and moderately serious dominant conditions as estimated from surveys in these populations in about 7.0 for dominants, 2.5 for recessives and 0.4 for X-linked conditions.This publication has 27 references indexed in Scilit:
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