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An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

Document Type

Article

Author

Guo, D.-C.; Duan, X.; Cecchi, A.C.; Marin, I.C.; Yu, Y.; Velasco, W.V.; Zhu, X.; Murdock, D.R.; Milewicz, D.M.; Mimnagh, K.; Lee, K.; Leal, S.M.; Wheeler, M.M.; Smith, J.; Bamshad, M.J.

Source

In: Clinical Genetics. (Clinical Genetics, June 2023, 103(6):704-708)

Subject

Language

English

ISSN

13990004
00099163

Online Access

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