Associated Papers
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort.
Gupta N et al.
Prenatal Diagnosis, 2025
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
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
Smits P et al.
The New England Journal of Medicine, 2010
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