Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene

Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case of CCA, in which a novel multiexon deletion of exons 35–39 in FBN2 was identified after simple...

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Detalles Bibliográficos
Autores principales: Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826123/
https://www.ncbi.nlm.nih.gov/pubmed/35154713
http://dx.doi.org/10.1002/ccr3.5335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826123/
https://www.ncbi.nlm.nih.gov/pubmed/35154713
http://dx.doi.org/10.1002/ccr3.5335

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