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_MOESM5_ESM.xlsx › S4
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
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
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 as another cause of acrodysostosis.
Michot C et al.
American Journal of Human Genetics, 2012
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