Author: Nat Pernick, M.D (see Authors page)

Revised: 2 September 2015, last major update July 2015

Copyright: (c) 2003-2015,, Inc.

PubMed Search: 11A1[title]
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Cite this page: 11A1. website. Accessed January 22nd, 2019.
Definition / general
Clinical features
  • Essential for normal skeletal development; mutations cause Marshall and Stickler syndromes, both characterized by craniofacial abnormalities, nearsightedness and hearing deficiencies (Matrix Biol 2008;27:330)
Uses by pathologists
  • May be marker of desmoplasia