A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report

BACKGROUND: Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with or without hormonal resistance. Pathogenic variants in the PRKAR1A and PDE4D genes are known genetic causes of this condition. The latter gene variants are more frequently identified in patients with...

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Detalles Bibliográficos
Autores principales: Petraitytė, Gunda, Šiaurytė, Kamilė, Mikštienė, Violeta, Cimbalistienė, Loreta, Kriaučiūnienė, Dovilė, Matulevičienė, Aušra, Utkus, Algirdas, Preikšaitienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051037/
https://www.ncbi.nlm.nih.gov/pubmed/33858404
http://dx.doi.org/10.1186/s12902-021-00741-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051037/
https://www.ncbi.nlm.nih.gov/pubmed/33858404
http://dx.doi.org/10.1186/s12902-021-00741-6

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