Article
Phenotypic abnormalities: terminology and classification.
American journal of medical genetics. Part A - 15 Dec 2003
Merks Johannes H M, van Karnebeek Clara D M, Caron Hubert N, Hennekam Raoul C M
Abstract excerpt
Clinical morphology has proved essential for the successful delineation of hundreds of syndromes and as a powerful instrument for detecting (candidate) genes (Gorlin et al. [2001]; Syndromes of the Head and Neck; Oxford: Oxford University Press. 1 p]. The major approach to reach this has been careful clinical evaluations of patients, focused on congenital anomalies. A similar careful physical examination...
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