Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2
Author:
Affiliation:
1. Guangzhou Medical University Guangzhou Guangdong China
2. Guangzhou Women and Children's Medical Center Guangzhou Guangdong China
Funder
Basic and Applied Basic Research Foundation of Guangdong Province
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12554
Reference5 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
3. Segmental border is defined by Ripply2-mediated Tbx6 repression independent of Mesp2
4. Mutated MESP2 Causes Spondylocostal Dysostosis in Humans
5. Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation
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