| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5509564 | Clinica Chimica Acta | 2017 | 25 Pages |
Abstract
We characterized four large genomic rearrangements in FBN1. FBN1 haploinsufficiency correlated with a classic MFS phenotype, while in-frame deletions between exons 24-53 of FBN1 tended to cause severe clinical phenotypes.
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Authors
Jiacheng Li, Wei Wu, Chaoxia Lu, Yaping Liu, Rongrong Wang, Nuo Si, Fang Liu, Jian Zhou, Shuyang Zhang, Xue Zhang,