Condition: Opsismodysplasia
rs397514508
in
INPPL1
gene and
Opsismodysplasia
PMID 23273567
2013 Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
PMID 23273569
2013 Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.