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

BACKGROUND: Loeys–Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). CASE PRESENTATION: We report a 7-year-old Japanese boy with Loeys–Dietz syndrome who carried a novel...

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Detalhes bibliográficos
Main Authors: Uike, Kiyoshi, Matsushita, Yuki, Sakai, Yasunari, Togao, Osamu, Nagao, Michinobu, Ishizaki, Yoshito, Nagata, Hazumu, Yamamura, Kenichiro, Torisu, Hiroyuki, Hara, Toshiro
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3843563/
https://ncbi.nlm.nih.gov/pubmed/24220024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-6-456
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