Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G

Open source

DOI: 10.1136/jmg-2023-109223
Published: 2023 Oct
Container: Journal of medical genetics
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:10.1136/jmg-2023-109223,
  title = {Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.},
  author = {Mirchi A and Guay SP and Tran LT and Wolf NI and Vanderver A and Brais B and Sylvain M and Pohl D and Rossignol E and Saito M and Moutton S and González-Gutiérrez-Solana L and Thiffault I and Kruer MC and Moron DG and Kauffman M and Goizet C and Sztriha L and Glamuzina E and Melançon SB and Naidu S and Retrouvey JM and Lacombe S and Bernardino-Cuesta B and De Bie I and Bernard G},
  year = {2023},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmg-2023-109223},
  url = {https://doi.org/10.1136/jmg-2023-109223}
}

RIS

TY  - JOUR
TI  - Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
AU  - Mirchi A
AU  - Guay SP
AU  - Tran LT
AU  - Wolf NI
AU  - Vanderver A
AU  - Brais B
AU  - Sylvain M
AU  - Pohl D
AU  - Rossignol E
AU  - Saito M
AU  - Moutton S
AU  - González-Gutiérrez-Solana L
AU  - Thiffault I
AU  - Kruer MC
AU  - Moron DG
AU  - Kauffman M
AU  - Goizet C
AU  - Sztriha L
AU  - Glamuzina E
AU  - Melançon SB
AU  - Naidu S
AU  - Retrouvey JM
AU  - Lacombe S
AU  - Bernardino-Cuesta B
AU  - De Bie I
AU  - Bernard G
PY  - 2023
JO  - Journal of medical genetics
DO  - 10.1136/jmg-2023-109223
UR  - https://doi.org/10.1136/jmg-2023-109223
ER  -

APA

A, M., SP, G., LT, T., NI, W., A, V., B, B., M, S., D, P., E, R., M, S., S, M., L, G., I, T., MC, K., DG, M., M, K., C, G., L, S., E, G., SB, M., S, N., JM, R., S, L., B, B., I, D. B., & G, B. (2023). Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.. Journal of medical genetics. https://doi.org/10.1136/jmg-2023-109223

Source records

pubmed · retrieved 2026-09-27T14:34:18.514Z