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Article

A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1.

Taiwanese journal of obstetrics & gynecology - 1 Jan 2022

Yang Yang, Yan Wang, Aifen Mao, Hao Wang

Abstract excerpt

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 applied to the family. A novel de novo nonsense mutation c.1237C > T was detected in the TGFBR1 gene. A diagnosis of...

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Identifiers

PMID: 35181021
DOI: 10.1016/j.tjog.2021.10.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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