Associated Papers
A Case of Opsismodysplasia with a Novel INPPL1 Variant.
Daşar T et al.
Molecular Syndromology, 2025
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.
Abumansour IS et al.
Clinical Case Reports, 2021
Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.
Gotoh O et al.
Nature Communications, 2019
31672974 (PubMed )
Supplement: 41467_2019_12985_MOESM8_ESM.xlsx › Suppl_Data_5
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Huber C et al.
American Journal of Human Genetics, 2013
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