Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.
McGlacken-Byrne SM, Abdelmaksoud A, Haini M, Palm L, Ashworth M, Li J, Wang W, Wang X, Wang J, Callaghan B, Kinsler VA, Faravelli F, Dattani MT.
McGlacken-Byrne SM, et al.
Eur J Endocrinol. 2022 Dec 1;187(6):K55-K61. doi: 10.1530/EJE-22-0287.
Eur J Endocrinol. 2022.
PMID: 36691942
We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing's syndrome, and distinct acral soft tissue overgrowth due to cutaneous muc …
We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular …