Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
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Barnes AM, et al. Among authors: paton w.
Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8.
Hum Mutat. 2013.
PMID: 23712425
Free PMC article.