Fatal Neonatal <scp>mTORopathy</scp> : Expanding the Phenotypic Spectrum of <i>RRAGC</i> ‐Associated <scp>L</scp> ong– <scp>O</scp> lsen– <scp>D</scp> istelmaier Syndrome

Juliana Lores, Valentina Botia‐Arciniegas, Diana Ramirez‐Montaño, Harry Pachajoa, David Vernaza‐Trujillo, Milena Prada‐Casilimas

Open source

DOI: 10.1111/cge.70263
Published: 2026-10-25
Container: Clinical Genetics
Publisher: Wiley
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. 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
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1111/cge.70263,
  title = {Fatal Neonatal
                    <scp>mTORopathy</scp>
                    : Expanding the Phenotypic Spectrum of
                    <i>RRAGC</i>
                    ‐Associated
                    <scp>L</scp>
                    ong–
                    <scp>O</scp>
                    lsen–
                    <scp>D</scp>
                    istelmaier Syndrome},
  author = {Juliana Lores and Valentina Botia‐Arciniegas and Diana Ramirez‐Montaño and Harry Pachajoa and David Vernaza‐Trujillo and Milena Prada‐Casilimas},
  year = {2026},
  journal = {Clinical Genetics},
  doi = {10.1111/cge.70263},
  url = {https://doi.org/10.1111/cge.70263}
}

RIS

TY  - JOUR
TI  - Fatal Neonatal
                    <scp>mTORopathy</scp>
                    : Expanding the Phenotypic Spectrum of
                    <i>RRAGC</i>
                    ‐Associated
                    <scp>L</scp>
                    ong–
                    <scp>O</scp>
                    lsen–
                    <scp>D</scp>
                    istelmaier Syndrome
AU  - Juliana Lores
AU  - Valentina Botia‐Arciniegas
AU  - Diana Ramirez‐Montaño
AU  - Harry Pachajoa
AU  - David Vernaza‐Trujillo
AU  - Milena Prada‐Casilimas
PY  - 2026
JO  - Clinical Genetics
DO  - 10.1111/cge.70263
UR  - https://doi.org/10.1111/cge.70263
ER  -

APA

Lores, J., Botia‐Arciniegas, V., Ramirez‐Montaño, D., Pachajoa, H., Vernaza‐Trujillo, D., & Prada‐Casilimas, M. (2026). Fatal Neonatal <scp>mTORopathy</scp> : Expanding the Phenotypic Spectrum of <i>RRAGC</i> ‐Associated <scp>L</scp> ong– <scp>O</scp> lsen– <scp>D</scp> istelmaier Syndrome. Clinical Genetics. https://doi.org/10.1111/cge.70263

Source records

crossref · retrieved 2026-11-10T14:30:23.554Z