ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 para...
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Full title
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
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TN_cdi_doaj_primary_oai_doaj_org_article_c27a06cd61034359a5ceaf3ef16fd41c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c27a06cd61034359a5ceaf3ef16fd41c
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02689-3
