Novel hypomorphic compound heterozygous ITGA3 variants underlie a mild phenotype of interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB): Expanding the genotypic and phenotypic spectrum

Yu-Rong Lee, Ping-Chen Hou, Yi-Han Chang, Pei-Chi Lin, Hsin-Yu Huang, Hui-Ching Cheng, Julia Yu-Yun Lee, Lin-Shien Fu, John A. McGrath, Chao-Kai Hsu

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DOI
10.1016/j.jdermsci.2026.10.004
Published
2026-10
Container
Journal of Dermatological Science
Publisher
Elsevier BV
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.jdermsci.2026.10.004,
  title = {Novel hypomorphic compound heterozygous ITGA3 variants underlie a mild phenotype of interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB): Expanding the genotypic and phenotypic spectrum},
  author = {Yu-Rong Lee and Ping-Chen Hou and Yi-Han Chang and Pei-Chi Lin and Hsin-Yu Huang and Hui-Ching Cheng and Julia Yu-Yun Lee and Lin-Shien Fu and John A. McGrath and Chao-Kai Hsu},
  year = {2026},
  journal = {Journal of Dermatological Science},
  doi = {10.1016/j.jdermsci.2026.10.004},
  url = {https://doi.org/10.1016/j.jdermsci.2026.10.004}
}

RIS

TY  - JOUR
TI  - Novel hypomorphic compound heterozygous ITGA3 variants underlie a mild phenotype of interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB): Expanding the genotypic and phenotypic spectrum
AU  - Yu-Rong Lee
AU  - Ping-Chen Hou
AU  - Yi-Han Chang
AU  - Pei-Chi Lin
AU  - Hsin-Yu Huang
AU  - Hui-Ching Cheng
AU  - Julia Yu-Yun Lee
AU  - Lin-Shien Fu
AU  - John A. McGrath
AU  - Chao-Kai Hsu
PY  - 2026
JO  - Journal of Dermatological Science
DO  - 10.1016/j.jdermsci.2026.10.004
UR  - https://doi.org/10.1016/j.jdermsci.2026.10.004
ER  - 

APA

Lee, Y., Hou, P., Chang, Y., Lin, P., Huang, H., Cheng, H., Lee, J. Y., Fu, L., McGrath, J. A., & Hsu, C. (2026). Novel hypomorphic compound heterozygous ITGA3 variants underlie a mild phenotype of interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB): Expanding the genotypic and phenotypic spectrum. Journal of Dermatological Science. https://doi.org/10.1016/j.jdermsci.2026.10.004

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