Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

Conclusions
We elucidated the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome. Patients harbouring pathogenic FBN1 variants with these genetic risk factors should be monitored carefully for scoliosis progression.

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Taniguchi, Y., Takeda, N., Inuzuka, R., Matsubayashi, Y., Kato, S., Doi, T., Yagi, H., Yamauchi, H., Ando, M., Oshima, Y., Tanaka, S. Tags: Open access Genotype-phenotype correlations Source Type: research