Condition: Uranostaphyloschisis


rs864309488 in GMNN gene and Uranostaphyloschisis PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs1553630457 in TGFBR2 gene and Uranostaphyloschisis PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.