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.