Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines
Author:
Affiliation:
1. Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
2. Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
Publisher
Annals of Laboratory Medicine
Subject
Biochemistry (medical),Clinical Biochemistry,General Medicine
Link
https://pdf.medrang.co.kr/ALM/2024/044/alm-44-3-271.pdf
Reference37 articles.
1. Marfan syndrome: clinical diagnosis and management
2. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
3. Structural and functional failure of fibrillin‑1 in human diseases (Review)
4. Consequences of Cysteine Mutations in Calcium-binding Epidermal Growth Factor Modules of Fibrillin-1
5. Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis
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