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Geleophysic dysplasia 1
- ... 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011. ...
- ... ADAMTSL2 gene have been identified in people with geleophysic dysplasia. Most of these mutations change single protein building ... contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in ...
