✦ LIBER ✦

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report

✍ Scribed by Uike, Kiyoshi; Matsushita, Yuki; Sakai, Yasunari; Togao, Osamu; Nagao, Michinobu; Ishizaki, Yoshito; Nagata, Hazumu; Yamamura, Kenichiro; Torisu, Hiroyuki; Hara, Toshiro

Book ID: 121598723
Publisher: BioMed Central
Year: 2013
Tongue: English
Weight: 453 KB
Volume: 6
Category: Article
ISSN: 1756-0500
DOI: 10.1186/1756-0500-6-456

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new sporadic case of early-onset Loeys

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2gene substantiates interindividual clinical variability

✍ A. Jamsheer; C. Henggeler; J. Wierzba; B. Loeys; A. De Paepe; Ch. Stheneur; N. B 📂 Article 📅 2009 🏛 Springer-Verlag 🌐 English ⚖ 432 KB

Effect of Mutation Type and Location on

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

✍ L. Faivre; G. Collod-Beroud; B.L. Loeys; A. Child; C. Binquet; E. Gautier; B. Ca 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 514 KB