Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation-Reference-Cited by-同舟云学术

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Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Published:2017-12-14 Issue: Volume: Page:360-365
ISSN:1308-5727
Container-title:Journal of Clinical Research in Pediatric Endocrinology
language:
Short-container-title:Jcrpe

Author:

Hoppmann Julia,Gesing Julia,Silve Caroline,Leroy Chrystel,Bertsche Astrid,Wolfgang Hirsch Franz,Kiess Wieland,Pfäffle Roland,Schuster Volker

Publisher

Galenos Yayinevi

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report;BMC Endocrine Disorders;2021-04-15

3. Calcium biology and disorders;Contemporary Practice in Clinical Chemistry;2020

4. A novel de novoPDE4Dgene mutation identified in a Chinese patient with acrodysostosis;genesis;2019-09-14

5. Design and Synthesis of Selective Phosphodiesterase 4D (PDE4D) Allosteric Inhibitors for the Treatment of Fragile X Syndrome and Other Brain Disorders;Journal of Medicinal Chemistry;2019-04-23

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