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
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C et al.
European Journal of Human Genetics : Ejhg, 2018
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.
Briet C et al.
Human Molecular Genetics, 2017
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
Elli FM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T et al.
American Journal of Medical Genetics. Part A, 2014
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A et al.
Journal of Medical Genetics, 2014
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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