Topic Completed: 1 July 2015

Minor changes: 4 March 2019

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

PubMed Search: 11A1[title]

Nat Pernick, M.D.
Page views in 2019: 26
Page views in 2020 to date: 33
Cite this page: Pernick N. 11A1. website. Accessed June 7th, 2020.
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
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