Chapter

FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400

Jerome L. Gorski

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/9780199934522.003.0180

Series: Oxford Monographs on Medical Genetics

FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400

Show Summary Details

Preview

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.  6234 words.  Illustrated.

Subjects: Clinical Genetics

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content. subscribe or login to access all content.