Understanding Genetic Disorders of Collagen

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Abstract
THE heritable disorders of connective tissue have been defined by McKusick1 as generalized defects that clinically involve primarily one element of connective tissues and are transmissible in mendelian patterns. Most of the disorders of collagen or elastin, the principal fibrillar protein components of connective tissue, have been described on the basis of their clinical manifestations, and until recently it has not been possible to determine the biochemical nature of any defect or even to demonstrate which component of the connective tissues is involved. Moreover, several of the disorders have appeared to be clinically and genetically heterogeneous, and each may thus . . .