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Stickler syndrome
Relevant markers:
CataractMicrognathia/retrognathiaPolyhydramniosTalipesParents markers:Cleft in hard palate
Incidence: 1/7500 — - Involved genes:
(gene — definition — chromosome)COL11A1 — 1p21, COL11A2 — 6p21.3, COL2A1 — 12q13.11-q13.2, COL9A1 — 6q12-q14 Inheritance mode: AD, AR Other online databases: OrphaNet, OMIM, Jablonski's Database References: 2010 Eur Rev Med Pharmacol Sci Two cases Read on PubMed Login for more details.