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Genes, Genome, and Developmental Malformations 

Genes, Genome, and Developmental Malformations
Chapter:
Genes, Genome, and Developmental Malformations
Author(s):

Dhavendra Kumar

DOI:
10.1093/med/9780199896028.003.0005
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date: 30 October 2020

Understanding the normal human development is a prerequisite for analyzing the pathophysiology of developmental malformations occurring either singly or as part of a multiple malformation syndrome or dysmorphic syndrome. Development in humans is strikingly similar to that in small creature, as well as in several other mammals including mouse and other primates. The mechanisms are similar by which the individual genome specifies the physical and functional state of an organism’s over all development- the key area of interest to a developmental biologist. A number of gene families and numerous related protein families regulate the complex process of biologic development. Notably examples are genes regulating or modifying the transcription or transcriptional factors and energy dynamic protein kinases. The availability of human and mouse genomes and that of several other small organisms and animals have provided developmental biologists with powerful new tools for identifying several genes, and their mutations, that control the human development enabling understanding molecular mechanisms and aiding to the precise clinical laboratory diagnosis of many dysmorphic/ malformation syndromes.

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