Results 1 -
9
of
9
for
Myopia "21," autosomal dominant
- ... 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; ...
- ... JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
- ... syndrome. SMAD4 Myhre syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... dysplasia. COL2A1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... symptoms. HRAS This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... COL2A1 Typically, SED congenita is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... condition. ASXL1 Bohring-Opitz syndrome is considered an autosomal dominant condition, which means one copy of the altered ...
- ... syndrome. FBN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... yellow color vision defects are inherited in an autosomal dominant pattern, which means one copy of the altered ...