对“一名患有过度生长和洛伊斯-迪茨综合征特征患者中转化生长因子β3潜伏相关肽结构域的新发突变”的回应 - Suppr

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Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features".

作者信息

Rienhoff Hugh Young

机构信息

CHORI, San Carlos, California.

出版信息

Am J Med Genet A. 2014 Aug;164A(8):2144-5. doi: 10.1002/ajmg.a.36603. Epub 2014 May 9.

DOI:10.1002/ajmg.a.36603

PMID:24817670

Abstract

摘要

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De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

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引用本文的文献

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Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features".

作者信息

Rienhoff Hugh Young

机构信息

CHORI, San Carlos, California.

出版信息

Am J Med Genet A. 2014 Aug;164A(8):2144-5. doi: 10.1002/ajmg.a.36603. Epub 2014 May 9.

DOI:10.1002/ajmg.a.36603

PMID:24817670

Abstract

摘要

相似文献

Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features".

Am J Med Genet A. 2014 Aug;164A(8):2144-5. doi: 10.1002/ajmg.a.36603. Epub 2014 May 9.

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5.

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.

Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Mol Cell Probes. 2015 Oct;29(5):330-4. doi: 10.1016/j.mcp.2015.07.003. Epub 2015 Jul 13.

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

Am J Med Genet A. 2020 May;182(5):1230-1235. doi: 10.1002/ajmg.a.61508. Epub 2020 Feb 5.

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24.

Heritable thoracic aortic aneurysm disease: recognizing phenotypes, exploring genotypes.

J Am Coll Cardiol. 2015 Apr 7;65(13):1337-1339. doi: 10.1016/j.jacc.2014.12.056.

Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Clin Genet. 2014 Dec;86(6):545-51. doi: 10.1111/cge.12308. Epub 2013 Dec 17.

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

Clin Genet. 2014 Dec;86(6):552-7. doi: 10.1111/cge.12314. Epub 2013 Dec 4.

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16.

引用本文的文献

Transforming Growth Factor Beta3 is Required for Cardiovascular Development.

J Cardiovasc Dev Dis. 2020 May 24;7(2):19. doi: 10.3390/jcdd7020019.

Reflections on my daughter's DNA.

Appl Transl Genom. 2016 Feb 1;8:45-8. doi: 10.1016/j.atg.2016.01.006. eCollection 2016 Mar.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.