Associated Papers
Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.
Tabanli G et al.
Molecular Syndromology, 2026
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
A Case of Opsismodysplasia with a Novel INPPL1 Variant.
Daşar T et al.
Molecular Syndromology, 2025
Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.
Abumansour IS et al.
Clinical Case Reports, 2021
Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.
Khwaja A et al.
Frontiers in Pediatrics, 2015
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
Iida A et al.
Journal of Human Genetics, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE et al.
American Journal of Human Genetics, 2013
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