Associated Papers
A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review.
Zhang Y et al.
Global Medical Genetics, 2025
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M et al.
Journal of Medical Genetics, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
Espiard S et al.
Endocrine-related Cancer, 2020
Activating PRKACB somatic mutation in cortisol-producing adenomas.
Espiard S et al.
Jci Insight, 2018
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