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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C et al.
European Journal of Human Genetics : Ejhg, 2018
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
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Kaname T et al.
Cellular Signalling, 2014
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A et al.
Journal of Medical Genetics, 2014
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H et al.
American Journal of Human Genetics, 2012
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