De novo mutation of the latency-associated peptide domain ofTGFB3in a patient with overgrowth and Loeys-Dietz syndrome features-Reference-Cited by-同舟云学术

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De novo mutation of the latency-associated peptide domain ofTGFB3in a patient with overgrowth and Loeys-Dietz syndrome features

Published:2014-05-05 Issue:8 Volume:164 Page:2141-2143
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Matyas Gabor¹²,Naef Paulina¹,Tollens Martin³,Oexle Konrad⁴

Affiliation:

1. Center for Cardiovascular Genetics and Gene Diagnostics; Foundation for People with Rare Diseases; Zurich Switzerland

2. Zurich Center of Integrative Human Physiology; University of Zurich; Zurich Switzerland

3. Pediatric Cardiology; Städtisches Krankenhaus München-Schwabing; Munich Germany

4. Institute of Human Genetics; Technische Universität München; Munich Germany

Funder

COFRA Foundation

Foundation Suyana

Gottfried & Julia Bangerter-Rhyner-Stiftung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36593/fullpdf

Reference4 articles.

1. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm;Lindsay;Nat Genet,2012

2. Transforming growth factor-beta 3 is required for secondary palate fusion;Proetzel;Nat Genet,1995

3. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome;Rienhoff;Am J Med Genet Part A,2013

4. Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1;Saito;J Biol Chem,2001

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1. Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish;Frontiers in Cell and Developmental Biology;2024-02-07

2. Genetics of aortic disease;Biomechanics of the Aorta;2024

3. A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report;Annals of Internal Medicine: Clinical Cases;2023-11-01

4. Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier;Frontiers in Genetics;2023-08-31

5. Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature;Italian Journal of Pediatrics;2022-06-06

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