Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis

Author:

Lynch Danielle C.1,Dyment David A.2,Huang Lijia3,Nikkel Sarah M.2,Lacombe Didier,Campeau Philippe M.4,Lee Brendan,Bacino Carlos A.,Michaud Jacques L.5,Bernier Francois P.,Consortium FORGE Canada6,Parboosingh Jillian S.,Innes A. Micheil

Affiliation:

1. Department of Medical Genetics; University of Calgary; Calgary; Alberta; Canada

2. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa; Ontario; Canada

3. Children's Hospital of Eastern Ontario Research Institute; Ottawa; Ontario; Canada

4. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston; Texas

5. Centre of Excellence in Neuromics; Université de Montréal and CHU Sainte-Justine Research Centre; Montréal; Québec; Canada

6. Steering Committee Membership is listed in Acknowledgements

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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1. PDE4D: A Multipurpose Pharmacological Target;International Journal of Molecular Sciences;2024-07-24

2. Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?;Brain Communications;2024

3. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis;Journal of Endocrinological Investigation;2023-02-07

4. Design, synthesis, biological evaluation and structural characterization of novel GEBR library PDE4D inhibitors;European Journal of Medicinal Chemistry;2021-11

5. PTH resistance;Molecular and Cellular Endocrinology;2021-07

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