The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.

Doğan Ç, Mutlu MB, Cansu A, Habiloğlu E, Öztürk M, Gümüş U, Gürler Aİ, Şahinoğlu B, Kale H, Alay MT, Sezer A, Kalaycı A, Güleç EY, Emre S, Polat H, Yiğit ZM, Bolat H, Esener Z, Akdağ DG, Bolat GÜ, Türkyılmaz A, Ayaz A, Kolkıran A, Ceylan AC, Solmaz T, Bahap Y, Cinkara N, Oğuz S, Uzay E, Güneş Sager S, Çebi AH, Demir O, Susam E, Kalay İ

Open source

DOI: 10.1186/s12887-026-07905-0
Published: 2026 Oct 21
Container: BMC 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:10.1186/s12887-026-07905-0,
  title = {The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.},
  author = {Doğan Ç and Mutlu MB and Cansu A and Habiloğlu E and Öztürk M and Gümüş U and Gürler Aİ and Şahinoğlu B and Kale H and Alay MT and Sezer A and Kalaycı A and Güleç EY and Emre S and Polat H and Yiğit ZM and Bolat H and Esener Z and Akdağ DG and Bolat GÜ and Türkyılmaz A and Ayaz A and Kolkıran A and Ceylan AC and Solmaz T and Bahap Y and Cinkara N and Oğuz S and Uzay E and Güneş Sager S and Çebi AH and Demir O and Susam E and Kalay İ},
  year = {2026},
  journal = {BMC pediatrics},
  doi = {10.1186/s12887-026-07905-0},
  url = {https://doi.org/10.1186/s12887-026-07905-0}
}

RIS

TY  - JOUR
TI  - The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.
AU  - Doğan Ç
AU  - Mutlu MB
AU  - Cansu A
AU  - Habiloğlu E
AU  - Öztürk M
AU  - Gümüş U
AU  - Gürler Aİ
AU  - Şahinoğlu B
AU  - Kale H
AU  - Alay MT
AU  - Sezer A
AU  - Kalaycı A
AU  - Güleç EY
AU  - Emre S
AU  - Polat H
AU  - Yiğit ZM
AU  - Bolat H
AU  - Esener Z
AU  - Akdağ DG
AU  - Bolat GÜ
AU  - Türkyılmaz A
AU  - Ayaz A
AU  - Kolkıran A
AU  - Ceylan AC
AU  - Solmaz T
AU  - Bahap Y
AU  - Cinkara N
AU  - Oğuz S
AU  - Uzay E
AU  - Güneş Sager S
AU  - Çebi AH
AU  - Demir O
AU  - Susam E
AU  - Kalay İ
PY  - 2026
JO  - BMC pediatrics
DO  - 10.1186/s12887-026-07905-0
UR  - https://doi.org/10.1186/s12887-026-07905-0
ER  -

APA

Ç, D., MB, M., A, C., E, H., M, Ö., U, G., Aİ, G., B, Ş., H, K., MT, A., A, S., A, K., EY, G., S, E., H, P., ZM, Y., H, B., Z, E., DG, A., GÜ, B., A, T., A, A., A, K., AC, C., T, S., Y, B., N, C., S, O., E, U., S, G. S., AH, Ç., O, D., E, S., & İ, K. (2026). The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.. BMC pediatrics. https://doi.org/10.1186/s12887-026-07905-0

Source records

pubmed · retrieved 2026-11-10T14:08:20.024Z