Associated Papers
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
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
Lee H et al.
American Journal of Medical Genetics. Part A, 2015
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE et al.
American Journal of Human Genetics, 2013
Select a paper to view details