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Stickler syndrome: Clinical characteristics and diagnostic criteria

โœ Scribed by Peter S. Rose; Howard P. Levy; Ruth M. Liberfarb; Joie Davis; Y. Szymko-Bennett; Benjamin I. Rubin; Ekaterini Tsilou; Andrew J. Griffith; Clair A. Francomano

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
170 KB
Volume
138A
Category
Article
ISSN
1552-4825

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We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2Al has been implicated as a