A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report
Introduction: Loeys‐Dietz syndrome (LDS) is a rare autosomal dominant disorder with extensive connective tissue involvement. The diagnosis of this disease is mainly based on clinical features combined with the detection of pathogenic gene mutations, mainly mutations in the transforming growth factor...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844025004967 |
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