Associated Papers
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.
Şimşek-Kiper PÖ et al.
American Journal of Medical Genetics. Part A, 2024
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype.
Topcu V et al.
Molecular Syndromology, 2024
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
Bosakova M et al.
Embo Molecular Medicine, 2020
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