Associated Papers
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
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Huber C et al.
American Journal of Human Genetics, 2013
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