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Results 1 - 5 of 5 for Myopia "22," autosomal dominant
  1. Stickler syndrome 
    ... 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19. ... P, Snead MP. Autosomal Recessive Stickler Syndrome. Genes (Basel). 2022 Jun 24; ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. Coloboma 
    ... patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered ... inheritance pattern for that condition, which may be autosomal dominant, autosomal recessive, or X-linked. Congenital ocular coloboma ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. COL2A1 gene 
    ... JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. Myhre syndrome 
    ... syndrome. SMAD4 Myhre syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  5. Marfan syndrome 
    ... syndrome. FBN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics