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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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Elsevier,
2022-01-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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