Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
about
The molecular genetics of Marfan syndrome and related disordersSevere aortic and arterial aneurysms associated with a TGFBR2 mutationMarfan syndrome: An eyesight of syndromeAbsence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotensionPrevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndromeReport of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.Experimental in vivo and ex vivo models for the study of human aortic dissection: promises and challengesA sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.Reflections on my daughter's DNA.TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
P2860
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P2860
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Two novel and one known mutati ...... ciated with FBN1 gene defects.
@en
Two novel and one known mutati ...... ciated with FBN1 gene defects.
@nl
type
label
Two novel and one known mutati ...... ciated with FBN1 gene defects.
@en
Two novel and one known mutati ...... ciated with FBN1 gene defects.
@nl
prefLabel
Two novel and one known mutati ...... ciated with FBN1 gene defects.
@en
Two novel and one known mutati ...... ciated with FBN1 gene defects.
@nl
P2093
P2860
P356
P1476
Two novel and one known mutati ...... ociated with FBN1 gene defects
@en
P2093
Andrea Pilotto
Anna Ficcadenti
Antonio Pelliccia
Clara Malattia
Claudia Lucchelli
Eliana Disabella
Emanuele Porcu
Luca Lanzarini
Marilena Tagliani
Marta Diegoli
P2860
P2888
P356
10.1038/SJ.EJHG.5201502
P577
2006-01-01T00:00:00Z