A Unique Case of PPP1R12A-Related Urogenital and Brain Malformation Syndrome Phenotypically Overlapping With VACTERL Association, With Additional Literature Review of Previously Described Phenotypes.
- DOI
- 10.1002/ajmg.a.70340
- Published
- 2026 Nov 9
- Container
- American journal of medical genetics. Part A
- 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:10.1002/ajmg.a.70340,
title = {A Unique Case of PPP1R12A-Related Urogenital and Brain Malformation Syndrome Phenotypically Overlapping With VACTERL Association, With Additional Literature Review of Previously Described Phenotypes.},
author = {Horn E and Kolodziejski M and Kalaitzoglou E and Buchanan A and Schneider D and Matheny JP},
year = {2026},
journal = {American journal of medical genetics. Part A},
doi = {10.1002/ajmg.a.70340},
url = {https://doi.org/10.1002/ajmg.a.70340}
}RIS
TY - JOUR TI - A Unique Case of PPP1R12A-Related Urogenital and Brain Malformation Syndrome Phenotypically Overlapping With VACTERL Association, With Additional Literature Review of Previously Described Phenotypes. AU - Horn E AU - Kolodziejski M AU - Kalaitzoglou E AU - Buchanan A AU - Schneider D AU - Matheny JP PY - 2026 JO - American journal of medical genetics. Part A DO - 10.1002/ajmg.a.70340 UR - https://doi.org/10.1002/ajmg.a.70340 ER -
APA
E, H., M, K., E, K., A, B., D, S., & JP, M. (2026). A Unique Case of PPP1R12A-Related Urogenital and Brain Malformation Syndrome Phenotypically Overlapping With VACTERL Association, With Additional Literature Review of Previously Described Phenotypes.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.70340
Source records
- pubmed · retrieved 2026-11-10T08:29:32.827Z