Associated Papers
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM2_ESM.xlsx › Prenatal_diagnostic_variants
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.
Costantini A et al.
Frontiers in Genetics, 2021
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A et al.
Jci Insight, 2019
30728324 (PubMed )
Supplement: jciinsight-4-124701-s024.pdf
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