TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly-Reference-Cited by-同舟云学术

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TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly

Published:2011-05-12 Issue:6 Volume:155 Page:1442-1447
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Campbell Ian M.,Kolodziejska Katarzyna E.,Quach Michael M.,Wolf Varina Louise,Cheung Sau Wai,Lalani Seema R.,Ramocki Melissa B.,Stankiewicz Pawel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34015/fullpdf

Reference27 articles.

1. Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome;Breckpot;Eur J Med Genet,2010

2. Origins and functional impact of copy number variation in the human genome;Conrad;Nature,2010

3. TGF-beta in the pathogenesis and prevention of disease: A matter of aneurysmic proportions;Dietz;J Clin Invest,2010

4. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects;Disabella;Eur J Hum Genet,2006

5. Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity;Horbelt;J Cell Sci,2010

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1. Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature;Molecular Genetics & Genomic Medicine;2023-03-21

2. Genome-wide association study reveals genomic regions and candidate genes for head size and shape in bighead carp (Hypophthalmichthys nobilis);Aquaculture;2021-06

3. Molecular Genetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2021-04-20

4. Loeys-Dietz Syndrome;Advances in Experimental Medicine and Biology;2021

5. Copy number alterations involving 59 ACMG ‐recommended secondary findings genes;Clinical Genetics;2020-10-10

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