A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

Fernandez-Alvarez, P; Codina-Sola, M; Valenzuela, I; Teixido-Tura, G; Cueto-Gonzalez, A; Paramonov, I; Antolin, M; Lopez-Grondona, F; Vendrell, T; Evangelista, A; Garcia-Arumi, E; Tizzano, EF

Tizzano, EF (通讯作者),Hosp Univ Vall dHebron, Dept Clin & Mol Genet, Barcelona, Spain.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (6): 605

Abstract

Background A proportion of de novo variants in patients affected by genetic disorders, particularly those with autosomal dominant (AD) inheritance, co......

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