• 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
• The Functional Roles of the Src Homology 2 Domain-Containing Inositol 5-Phosphatases SHIP1 and SHIP2 in the Pathogenesis of Human Diseases
• Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia