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Updated: Aug 19, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
[Hereditary factors and their causative role in anatomic variation]
Abstract:
As demonstrate the literature data and the authors' observations on the composition of the anatomical structures of the extremities at the popliteal pterigyum syndrome of Smith-Lemley-Optis, as well as at some other monogenic syndromes, the manifestation of the anatomical changeability in humans is defined, to an essential degree, by hereditary factors. A suggestion is made that investigation of the anatomical changeability in connection with genetic peculiarities of the organism makes it possible to approach the causal interpretation of the variants and the developmental anomalies and comprehend the sources of multiplicity of forms and structure of the human organs and systems.
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