Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome-Reference-Cited by-同舟云学术

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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome

Published:2019-10 Issue: Volume:213 Page:235-240
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Wojcik Monica H.,Thiele Katri,Grant Carly F.,Chao Katherine,Goodrich Julia,O'Donnell-Luria Anne,Lacro Ronald V.,Tan Wen-Hann,Agrawal Pankaj B.

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institutes of Health

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference15 articles.

1. Diagnosis and management of infantile Marfan syndrome;Morse;Pediatrics,1990

2. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40;Tiecke;Eur J Hum Genet,2001

3. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function;Kirschner;J Biol Chem,2011

4. The revised Ghent nosology for the Marfan syndrome;Loeys;J Med Genet,2010

5. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome;Loeys;Hum Mutat,2004

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genome Sequencing for Diagnosing Rare Diseases;New England Journal of Medicine;2024-06-06

2. A 25-year odyssey of genomic technology advances and structural variant discovery;Cell;2024-02

3. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis;2023-08-13

4. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions;The American Journal of Human Genetics;2023-08

5. An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome;Egyptian Journal of Medical Human Genetics;2022-11-17

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