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Results 1 - 3 of 3 for Knobloch syndrome 2
  1. ... Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet. 1993 Apr 15;46(2):203-8. doi: 10.1002/ajmg.1320460221. Citation ...
  2. ... COL18A1 gene have been identified in people with Knobloch syndrome, a condition characterized by severe vision problems and ... protein likely causes the signs and symptoms of Knobloch syndrome. It is unclear whether endostatin is involved in ...
  3. ... pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen syndrome. Because common myopia is a ... syndrome, it follows the inheritance pattern of that syndrome, most commonly autosomal dominant, autosomal recessive, or X-linked. ... ClinicalTrials.gov MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 MYOPIA 1, X-LINKED; MYP1 ...