Associated Papers
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
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.
Hoppmann J et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.
Briet C et al.
Human Molecular Genetics, 2017
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