A novel homozygous stop-gain variant in LRRC32 causing cleft palate, proliferative retinopathy, and developmental delay
The LRRC32 gene encodes GARP, a cell surface receptor that regulates the activation of TGF-β. This regulation of TGF-β helps in various cellular processes, including immune regulation and tissue development. In this case report, we describe a male patient with a novel homozygous LRRC32 variant. He p...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Rare |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008725000456 |
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