A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles.

AutophagyMay 19, 2026 (epub)
Case ReportMedical GeneticsNeurologyOpen access

Marion Carpentier, Nicolas Chatron, Isabelle Rouvet et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Macroautophagy/autophagy is a fundamental process for neuronal homeostasis, yet its role in human development, notably brain development, remains poorly understood. Here, we report a fetus presenting severe developmental defects, including brain malformations, carrying two deleterious variants in ATG7 , a gene associated with severe neurodevelopmental disorders: maternally…

Source

PubMed · PMID 42157368Free full text on PubMed Central

Published in Autophagy. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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