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Article

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Orphanet journal of rare diseases - 24 Apr 2023

Skopkova Martina, Stufkova Hana, Rambani Vibhuti, Stranecky Viktor, Brennerova Katarina, Kolnikova Miriam, Pietrzykova Michaela, Karhanek Miloslav, Noskova Lenka, Tesarova Marketa, Hansikova Hana, Gasperikova Daniela

Abstract excerpt

BACKGROUND: Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of ATAD3A-related disorders is also challenging due to three paralogous genes in the ATAD3 locus, making it a difficult...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fetal and Pediatric Neurological Disorders

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Source

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Identifiers

PMID: 37095554
DOI: 10.1186/s13023-023-02689-3
PMCID: PMC10127305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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