Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.

Al-Younis I, Basque L, Crapoulet N, Dyack S, Del Caño-Ochoa F, Ramón-Maiques S, MacKay SB, Rzasa J, Sadikovic B, McConkey H, Ben Amor M

Open source

DOI: 10.3389/fgene.2026.1813300
Published: 2026
Container: Frontiers in genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.3389/fgene.2026.1813300,
  title = {Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.},
  author = {Al-Younis I and Basque L and Crapoulet N and Dyack S and Del Caño-Ochoa F and Ramón-Maiques S and MacKay SB and Rzasa J and Sadikovic B and McConkey H and Ben Amor M},
  year = {2026},
  journal = {Frontiers in genetics},
  doi = {10.3389/fgene.2026.1813300},
  url = {https://doi.org/10.3389/fgene.2026.1813300}
}

RIS

TY  - JOUR
TI  - Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.
AU  - Al-Younis I
AU  - Basque L
AU  - Crapoulet N
AU  - Dyack S
AU  - Del Caño-Ochoa F
AU  - Ramón-Maiques S
AU  - MacKay SB
AU  - Rzasa J
AU  - Sadikovic B
AU  - McConkey H
AU  - Ben Amor M
PY  - 2026
JO  - Frontiers in genetics
DO  - 10.3389/fgene.2026.1813300
UR  - https://doi.org/10.3389/fgene.2026.1813300
ER  -

APA

I, A., L, B., N, C., S, D., F, D. C., S, R., SB, M., J, R., B, S., H, M., & M, B. A. (2026). Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.. Frontiers in genetics. https://doi.org/10.3389/fgene.2026.1813300

Source records

pubmed · retrieved 2026-09-26T06:25:52.625Z