Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling

Liwei Li, Jiarui Li, Zhenyan Li, Huijing Lv, Jian Sun, Xiufeng Wang, Shirui Hao, Lina Zheng, Shuping Wang, Zhenpu Li, Shuping Li

Open source

DOI
10.1097/md.0000000000051483
Published
2026-11-06
Container
Medicine
Publisher
Ovid Technologies (Wolters Kluwer Health)
Open access
unknown

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BibTeX

@article{allodium:10.1097/md.0000000000051483,
  title = {Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G\>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling},
  author = {Liwei Li and Jiarui Li and Zhenyan Li and Huijing Lv and Jian Sun and Xiufeng Wang and Shirui Hao and Lina Zheng and Shuping Wang and Zhenpu Li and Shuping Li},
  year = {2026},
  journal = {Medicine},
  doi = {10.1097/md.0000000000051483},
  url = {https://doi.org/10.1097/md.0000000000051483}
}

RIS

TY  - JOUR
TI  - Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling
AU  - Liwei Li
AU  - Jiarui Li
AU  - Zhenyan Li
AU  - Huijing Lv
AU  - Jian Sun
AU  - Xiufeng Wang
AU  - Shirui Hao
AU  - Lina Zheng
AU  - Shuping Wang
AU  - Zhenpu Li
AU  - Shuping Li
PY  - 2026
JO  - Medicine
DO  - 10.1097/md.0000000000051483
UR  - https://doi.org/10.1097/md.0000000000051483
ER  - 

APA

Li, L., Li, J., Li, Z., Lv, H., Sun, J., Wang, X., Hao, S., Zheng, L., Wang, S., Li, Z., & Li, S. (2026). Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling. Medicine. https://doi.org/10.1097/md.0000000000051483

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