Childhood‐Onset Neurodegeneration With Progressive Microcephaly ( <scp>CONPM</scp> ) due to a <scp> <i>DTYMK</i> </scp> Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra‐Rare Disease

Hernández‐Carreto Raúl, Acosta‐Rodríguez‐Bueno Carlos Patricio, Barragán‐Arevalo Tania, Ruiz‐Robles Osiris, Valdés‐Ortega Esteban Alberto, Cerón‐Rodríguez Magdalena, Viveros‐Rodríguez Romina Tamara, Moreno‐Salgado Rodrigo

Open source

DOI: 10.1002/ajmg.a.64187
Published: 2025-07-22
Container: American Journal of Medical Genetics Part A
Publisher: Wiley
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.64187,
  title = {Childhood‐Onset Neurodegeneration With Progressive Microcephaly (
                    <scp>CONPM</scp>
                    ) due to a
                    <scp>
                      <i>DTYMK</i>
                    </scp>
                    Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra‐Rare Disease},
  author = {Hernández‐Carreto Raúl and Acosta‐Rodríguez‐Bueno Carlos Patricio and Barragán‐Arevalo Tania and Ruiz‐Robles Osiris and Valdés‐Ortega Esteban Alberto and Cerón‐Rodríguez Magdalena and Viveros‐Rodríguez Romina Tamara and Moreno‐Salgado Rodrigo},
  year = {2025},
  journal = {American Journal of Medical Genetics Part A},
  doi = {10.1002/ajmg.a.64187},
  url = {https://doi.org/10.1002/ajmg.a.64187}
}

RIS

TY  - JOUR
TI  - Childhood‐Onset Neurodegeneration With Progressive Microcephaly (
                    <scp>CONPM</scp>
                    ) due to a
                    <scp>
                      <i>DTYMK</i>
                    </scp>
                    Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra‐Rare Disease
AU  - Hernández‐Carreto Raúl
AU  - Acosta‐Rodríguez‐Bueno Carlos Patricio
AU  - Barragán‐Arevalo Tania
AU  - Ruiz‐Robles Osiris
AU  - Valdés‐Ortega Esteban Alberto
AU  - Cerón‐Rodríguez Magdalena
AU  - Viveros‐Rodríguez Romina Tamara
AU  - Moreno‐Salgado Rodrigo
PY  - 2025
JO  - American Journal of Medical Genetics Part A
DO  - 10.1002/ajmg.a.64187
UR  - https://doi.org/10.1002/ajmg.a.64187
ER  -

APA

Raúl, H., Patricio, A. C., Tania, B., Osiris, R., Alberto, V. E., Magdalena, C., Tamara, V. R., & Rodrigo, M. (2025). Childhood‐Onset Neurodegeneration With Progressive Microcephaly ( <scp>CONPM</scp> ) due to a <scp> <i>DTYMK</i> </scp> Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra‐Rare Disease. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.64187

Source records

crossref · retrieved 2026-11-10T20:12:36.910Z