Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia

Acroscyphodysplasia (ASD) is an ultra-rare skeletal dysplasia characterized by severe brachydactyly, metaphyseal scaphoid knee deformities, growth retardation, and intellectual disability. To date, only seven cases of ASD have been reported, all associated with missense variants in the PDE4D gene. W...

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Bibliographic Details
Main Authors: Anna Morgul, Margarita Sharova, Vladimir Kenis, Maria Orlova, Oxana Ryzhkova, Tatiana Markova
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Medicine
Subjects:
acroscyphodysplasia
PDE4D
scaphoid knee deformities
brachydactyly
growth retardation
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1623593/full
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