Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
- DOI
- 10.1016/j.ejmg.2017.08.004
- Published
- 2017 Nov
- Container
- European journal of medical genetics
- Publisher
- Not recorded
- Open access
- unknown
Credibility signals
limited evidence Score 43/100 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.
- cautionDOI resolves: No matching Crossref record was present in this response.
- 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.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- 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.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1016/j.ejmg.2017.08.004,
title = {Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.},
author = {Bedeschi MF and Marangi G and Calvello MR and Ricciardi S and Leone FPC and Baccarin M and Guerneri S and Orteschi D and Murdolo M and Lattante S and Frangella S and Keena B and Harr MH and Zackai E and Zollino M},
year = {2017},
journal = {European journal of medical genetics},
doi = {10.1016/j.ejmg.2017.08.004},
url = {https://doi.org/10.1016/j.ejmg.2017.08.004}
}RIS
TY - JOUR TI - Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. AU - Bedeschi MF AU - Marangi G AU - Calvello MR AU - Ricciardi S AU - Leone FPC AU - Baccarin M AU - Guerneri S AU - Orteschi D AU - Murdolo M AU - Lattante S AU - Frangella S AU - Keena B AU - Harr MH AU - Zackai E AU - Zollino M PY - 2017 JO - European journal of medical genetics DO - 10.1016/j.ejmg.2017.08.004 UR - https://doi.org/10.1016/j.ejmg.2017.08.004 ER -
APA
MF, B., G, M., MR, C., S, R., FPC, L., M, B., S, G., D, O., M, M., S, L., S, F., B, K., MH, H., E, Z., & M, Z. (2017). Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.. European journal of medical genetics. https://doi.org/10.1016/j.ejmg.2017.08.004
Source records
- pubmed · retrieved 2026-09-26T10:05:34.478Z