Chapter

The Paired Box (PAX) Gene Family: Introduction to Paired Box Genes

Cherie Stayner, Caiyun G. Li, Petros P. Petrou, Peter Gruss and Michael R. Eccles

in Epstein's Inborn Errors of Development

Third edition

Published on behalf of Oxford University Press

Published in print June 2016 | ISBN: 9780199934522
Published online July 2016 | e-ISBN: 9780190213534 | DOI: https://dx.doi.org/10.1093/med/9780199934522.003.0109

Series: Oxford Monographs on Medical Genetics

The Paired Box (PAX) Gene Family: Introduction to Paired Box Genes

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Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Emphasis is placed the developmental roles of genes in the causation of hereditary conditions affecting appearance and function.

Chapter.  3830 words. 

Subjects: Clinical Genetics

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