A Japanese Family of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation
Author:
Affiliation:
1. Department of Internal Medicine, Sumitomo Hospital
2. Department of Human Genetics, Yokohama City University Graduate School of Medicine
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/46/24/46_24_1995/_pdf
Reference25 articles.
1. Heterozygous TGFBR2 mutations in Marfan syndrome
2. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
3. Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
4. Marfan's syndrome
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1. Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections;International Heart Journal;2018-09-01
2. Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report;BMC Research Notes;2013-11-12
3. Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series;European Journal of Pediatrics;2013-10-22
4. Loeys-Dietz Syndrome with Bilateral Radial Head Dislocations: A Case Report;Journal of Orthopaedic Surgery;2013-08
5. Annuloaortic ectasia in a 16 year-old boy with Loeys–Dietz syndrome;Heart, Lung and Circulation;2012-04
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