Two Truncating <i>MITF</i> Variants Expand the Phenotypic Spectrum of <scp>COMMAD</scp> Syndrome

Andreas Pampanos, Anastasia‐E. Kostantinidou, Maria Tzetis, Vassilis Papanikolaou, Vasiliki Falaina, Aspasia Tsezou

Open source

DOI: 10.1111/cge.70260
Published: 2026-10-07
Container: Clinical Genetics
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:10.1111/cge.70260,
  title = {Two Truncating
                    <i>MITF</i>
                    Variants Expand the Phenotypic Spectrum of
                    <scp>COMMAD</scp>
                    Syndrome},
  author = {Andreas Pampanos and Anastasia‐E. Kostantinidou and Maria Tzetis and Vassilis Papanikolaou and Vasiliki Falaina and Aspasia Tsezou},
  year = {2026},
  journal = {Clinical Genetics},
  doi = {10.1111/cge.70260},
  url = {https://doi.org/10.1111/cge.70260}
}

RIS

TY  - JOUR
TI  - Two Truncating
                    <i>MITF</i>
                    Variants Expand the Phenotypic Spectrum of
                    <scp>COMMAD</scp>
                    Syndrome
AU  - Andreas Pampanos
AU  - Anastasia‐E. Kostantinidou
AU  - Maria Tzetis
AU  - Vassilis Papanikolaou
AU  - Vasiliki Falaina
AU  - Aspasia Tsezou
PY  - 2026
JO  - Clinical Genetics
DO  - 10.1111/cge.70260
UR  - https://doi.org/10.1111/cge.70260
ER  -

APA

Pampanos, A., Kostantinidou, A., Tzetis, M., Papanikolaou, V., Falaina, V., & Tsezou, A. (2026). Two Truncating <i>MITF</i> Variants Expand the Phenotypic Spectrum of <scp>COMMAD</scp> Syndrome. Clinical Genetics. https://doi.org/10.1111/cge.70260

Source records

crossref · retrieved 2026-11-08T01:07:51.330Z