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.