A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1
Objective: We present a rare untypical Loeys-Dietz syndrome 1 case in prenatal setting and report a novel mutation in the TGFBR1 gene. Case report: A pregnant woman came for medical attention due to the fetal ultrasound anomaly. The fetus was found to have short long bones. Trio-based WES was applie...
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| Principais autores: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2022-01-01
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| Serier: | Taiwanese Journal of Obstetrics & Gynecology |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S102845592100303X |
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