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Molecular dysmorphology

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Short Specialist Review

  1. Leslie G. Biesecker

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g106303

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Biesecker, L. G. 2005. Molecular dysmorphology. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:74.

Author Information

  1. National Institutes of Health, Bethesda, MD, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

Clinical dysmorphology includes the diagnosis and management of patients with multiple malformation syndromes. When this clinical practice is merged with the research disciplines of genomics and developmental biology, it is called molecular dysmorphology. The goals of this scientific discipline are the delineation of the molecular basis of normal and abnormal development and the improvement of the care of patients affected by these disorders through increased knowledge. The development of the field is reviewed and examples are presented to demonstrate the power and excitement of this discipline.

Keywords:

  • malformations;
  • dysmorphology;
  • developmental biology;
  • positional cloning;
  • pediatric genetics;
  • morphogenesis