Disease: Opsismodysplasia
- A further case of opsismodysplasia with hydrocephalus
- Additional case of opsismodysplasia supporting autosomal recessive inheritance
- Altered chondrocyte differentiation, matrix mineralization and MEK-Erk1/2 signaling in an INPPL1 catalytic knock-out mouse model of opsismodysplasia
- Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia
- Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia
- Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
- Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects
- Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance
- Hypophosphatemic rickets in opsismodysplasia
- INPPL1 gene mutations in opsismodysplasia
- Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia
- Opsismodysplasia
- Opsismodysplasia
- Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1
- Opsismodysplasia: a case report
- Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae
- Opsismodysplasia: another case and literature review
- Opsismodysplasia: implications of mutations in the developmental gene INPPL1
- Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy
- Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update
- Prenatal-onset <em>INPPL1</em>-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
- SHIP2 signaling in normal and pathological situations: Its impact on cell proliferation
- SHIP2: Structure, Function and Inhibition
- Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia