Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Douiev L, Alvarez PF, Frank M, Hanington L, Hoffman TL, Irons MB, Kim J, Kumar A, Lasa-Aranzasti A, Le Duc D, Livesey H, Murch O, Shears D, Walther BK, Harel T

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DOI: 10.1002/ajmg.a.64048
Published: 2025 Aug
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.64048,
  title = {Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.},
  author = {Douiev L and Alvarez PF and Frank M and Hanington L and Hoffman TL and Irons MB and Kim J and Kumar A and Lasa-Aranzasti A and Le Duc D and Livesey H and Murch O and Shears D and Walther BK and Harel T},
  year = {2025},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.64048},
  url = {https://doi.org/10.1002/ajmg.a.64048}
}

RIS

TY  - JOUR
TI  - Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.
AU  - Douiev L
AU  - Alvarez PF
AU  - Frank M
AU  - Hanington L
AU  - Hoffman TL
AU  - Irons MB
AU  - Kim J
AU  - Kumar A
AU  - Lasa-Aranzasti A
AU  - Le Duc D
AU  - Livesey H
AU  - Murch O
AU  - Shears D
AU  - Walther BK
AU  - Harel T
PY  - 2025
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.64048
UR  - https://doi.org/10.1002/ajmg.a.64048
ER  -

APA

L, D., PF, A., M, F., L, H., TL, H., MB, I., J, K., A, K., A, L., D, L. D., H, L., O, M., D, S., BK, W., & T, H. (2025). Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.64048

Source records

pubmed · retrieved 2026-09-26T12:15:53.000Z