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_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
Veugelers M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
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