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:	Yang Yang, Wang Yan, Mao Aifen, Wang Hao
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2022-01-01
סדרה:	Taiwanese Journal of Obstetrics & Gynecology
נושאים:	Loeys-Dietz syndrome 1 TGFBR1 Whole exome sequencing Prenatal diagnosis
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S102845592100303X
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