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Article

Osteoporosis in Stickler syndrome. A new family case with bone histology study.

Morphologie : bulletin de l'Association des anatomistes - 1 Mar 2017

Insalaco P, Legrand E, Bouvard B, Audran M

Abstract excerpt

The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by Stickler in 1965, due to mutations on the collagen genes. Currently about 40 different genes have been identified which encode for at least 27 different collagens. The majority of mutations occur in the COL2A1 gene on chromosome 12q13 (SS type I). Mutations in COL11A1 are less frequent (SS type II). More recently,...

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Identifiers

PMID: 28159459
DOI: 10.1016/j.morpho.2016.10.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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