Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
Venkatapuram VS et al.
American Journal of Medical Genetics. Part A, 2022
IMPAD1 mutations in two Catel-Manzke like patients.
Nizon M et al.
American Journal of Medical Genetics. Part A, 2012
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Vissers LE et al.
American Journal of Human Genetics, 2011
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