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
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Cheng C et al.
Gigascience, 2016
26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel
Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.
Zhang L et al.
American Journal of Human Genetics, 2015
25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
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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