Associated Papers
Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.
Morgul A et al.
Frontiers in Medicine, 2025
A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
Petraitytė G et al.
Bmc Endocrine Disorders, 2021
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A et al.
Bmc Medical Genetics, 2018
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.
Briet C et al.
Human Molecular Genetics, 2017
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