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Peer-reviewedCC BYClinical case reports

A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report

  • Omar Jamal Ibrahim1
  • Ali Rajabi2
  • Mortaza Bonyadi1
  • Mohammad Barzegar2
  1. 1University of Tabriz
  2. 2Tabriz University of Medical Sciences
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Cite

BibTeXRIS
BibTeX
@article{ibrahim2026novel,
  title = {{A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report}},
  author = {Omar Jamal Ibrahim and Ali Rajabi and Mortaza Bonyadi and Mohammad Barzegar},
  journal = {Clinical case reports},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13674167},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report
AU  - Omar Jamal Ibrahim
AU  - Ali Rajabi
AU  - Mortaza Bonyadi
AU  - Mohammad Barzegar
PY  - 2026
DA  - 2026/10/01
JO  - Clinical case reports
UR  - https://europepmc.org/article/PMC/PMC13674167
SN  - 2050-0904
ER  -