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Article

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

BMC endocrine disorders - 15 Apr 2021

Petraitytė Gunda, Šiaurytė Kamilė, Mikštienė Violeta, Cimbalistienė Loreta, Kriaučiūnienė Dovilė, Matulevičienė Aušra, Utkus Algirdas, Preikšaitienė Eglė

Abstract excerpt

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 midfacial and nasal hypoplasia and neurological involvement. The aim of our study was to analyse and confirm a...

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Identifiers

PMID: 33858404
DOI: 10.1186/s12902-021-00741-6
PMCID: PMC8051037

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A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.PMID 33858404Read ↗

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Novel mutations of the PRKAR1A gene in patients with acrodysostosis.Semantic proximity Read ↗

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