A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability.
Hassani M, Taghizadeh S, Farahzad Broujeni A, Habibi M, Banitalebi S, Kasiri M, Sadeghi A, Nozari A.
Hassani M, et al.
Adv Biomed Res. 2023 Apr 28;12:114. doi: 10.4103/abr.abr_138_22. eCollection 2023.
Adv Biomed Res. 2023.
PMID: 37288014
Free PMC article.
RESULTS: Whole-exome sequencing analysis revealed a novel heterozygote mutation in the proband located at the third TGF-beta-binding protein-like (TB) domain of the FBN1 gene (NM000138: c.2066A>G: (p. Glu689Gly), NP_000129.3, in exon 17 of the gene). Co-segregation anal …
RESULTS: Whole-exome sequencing analysis revealed a novel heterozygote mutation in the proband located at the third TGF-beta-binding protein …