Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Margiotti K, Libotte F, Fabiani M, Mesoraca A, Giorlandino C

DOI: 10.1155/2024/4896940
Published: 2024
Container: Case reports in pediatrics
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. 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
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1155/2024/4896940,
  title = {Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.},
  author = {Margiotti K and Libotte F and Fabiani M and Mesoraca A and Giorlandino C},
  year = {2024},
  journal = {Case reports in pediatrics},
  doi = {10.1155/2024/4896940},
  url = {https://doi.org/10.1155/2024/4896940}
}

RIS

TY  - JOUR
TI  - Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.
AU  - Margiotti K
AU  - Libotte F
AU  - Fabiani M
AU  - Mesoraca A
AU  - Giorlandino C
PY  - 2024
JO  - Case reports in pediatrics
DO  - 10.1155/2024/4896940
UR  - https://doi.org/10.1155/2024/4896940
ER  -

APA

K, M., F, L., M, F., A, M., & C, G. (2024). Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.. Case reports in pediatrics. https://doi.org/10.1155/2024/4896940

Source records

pubmed · retrieved 2026-09-26T09:36:24.092Z