Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/jhg201732.pdf
Reference38 articles.
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3. Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37, 275–281. (2005).
4. Pannu, H., Tran-Fadulu, V. & Milewicz, D. M . Genetic basis of thoracic aortic aneurysms and aortic dissections. Am. J. Med. Genet. C Semin. Med. Genet. 139C, 10–16. (2005).
5. Putnam, E. A., Cho, M., Zinn, A. B., Towbin, J. A., Byers, P. H. & Milewicz, D. M . Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am. J. Med. Genet. 62, 233–242 (1996).
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