Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.
Overview & Synopsis
Open access biomedical research article published in J Hum Genet.
Indexed from repository: PubMed Central
(
pmc.ncbi.nlm.nih.gov)
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Document Information
| Document Title | Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies. |
|---|---|
| Author / Organization | Bozlak S, Yavas C, Seflekci Y, Dogan T, Arvas YE |
| Subject & Discipline | J Hum Genet |
| Categories | Medicine & Health |
| Publication Year | 2026 |
| License / Rights | Open Access / Creative Commons |
| Resource Verification | Listed PDF (Verification Pending) |
| Original Host Website |
PubMed Central
(pmc.ncbi.nlm.nih.gov)
|
| File Format | application/pdf (Portable Document Format) |
| Language | EN |
| Catalog ID | DOC-6263 |
| Original Source Link | Visit Source Page on pmc.ncbi.nlm.nih.gov » |