Expanding the skeletal phenotype of Loeys-D... [Am J Med Genet A. 2011] - PubMed

Supplemental Content

Save items

Related citations in PubMed

Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. [Am J Med Genet A. 2010]
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
Kirmani S, Tebben PJ, Lteif AN, Gordon D, Clarke BL, Hefferan TE, Yaszemski MJ, McGrann PS, Lindor NM, Ellison JW. Am J Med Genet A. 2010 Apr; 152A(4):1016-9.
Magnetic resonance imaging findings in Loeys-Dietz syndrome. [Cardiol Young. 2010]
Magnetic resonance imaging findings in Loeys-Dietz syndrome.
Valverde I, Simpson J, Beerbaum P. Cardiol Young. 2010 Apr; 20(2):210-3. Epub 2010 Mar 4.
Imaging findings in a child with Loeys-Dietz syndrome. [Circulation. 2012]
Imaging findings in a child with Loeys-Dietz syndrome.
Dhouib A, Beghetti M, Didier D. Circulation. 2012 Jul 24; 126(4):507-8.
Review A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. [J Appl Genet. 2009]
Review A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A. J Appl Genet. 2009; 50(4):405-10.
Review Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. [Fetal Diagn Ther. 2009]
Review Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation.
Gutman G, Baris HN, Hirsch R, Mandel D, Yaron Y, Lessing JB, Kuperminc MJ. Fetal Diagn Ther. 2009; 26(1):35-7. Epub 2009 Oct 10.

See reviews... See all...

Recent activity

Clear Turn Off Turn On

Expanding the skeletal phenotype of Loeys-Dietz syndrome.
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
Am J Med Genet A. 2011 May ;155A(5):1178-83. doi: 10.1002/ajmg.a.33813. Epub 2011 Apr 11 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Source

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information