First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report-Reference-Cited by-同舟云学术

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Published:2018-09-15 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Baban Anwar^ORCID,Magliozzi Monia,Loeys Bart,Adorisio Rachele,Alesi Viola,Secinaro Aurelio,Corica Bernadette,Vricella Luca,Dietz Harry C.,Drago Fabrizio,Novelli Antonio,Amodeo Antonio

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0661-2.pdf

Reference14 articles.

1. MacCarrick G, Black JH 3rd, Bowdin S, et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014;16:576–87.

2. Mátyás G, Arnold E, Carrel T, et al. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat. 2006;27:760–9.

3. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017;376(1):21–31.

4. McKinlay Gardner RJ, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counselling. 4rth ed. Oxford. p. 57.

5. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788–98.

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