A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis
Author:
Publisher
Oxford University Press (OUP)
Subject
Infectious Diseases,Pediatrics, Perinatology, and Child Health
Link
http://academic.oup.com/tropej/article-pdf/60/3/257/9138778/fmt109.pdf
Reference15 articles.
1. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
2. Holt-Oram syndrome: a clinical genetic study.
3. Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
4. Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype
5. TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome
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1. TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects;Molecular Medicine Reports;2022-05-04
2. Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician;Journal of Pediatric Surgery;2021-12
3. Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report;Frontiers in Pediatrics;2021-10-19
4. Functional analysis of two novel TBX5 variants present in individuals with Holt–Oram syndrome with different clinical manifestations;Molecular Genetics and Genomics;2021-04-17
5. High expression level of T-box transcription factor 5 predicts unfavorable survival in stage I and II gastric adenocarcinoma;Oncology Letters;2015-07-20
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