Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance. | Front Genet;13: 943083, 2022. | MEDLINE

Main content 1 Search 2 Footer 3

+A A -A High contrast

VHL Search Portal

Information and Knowledge for Health

Subject descriptor lookup Advanced Search

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.

Chen, Ze-Xu; Jia, Wan-Nan; Jiang, Yong-Xiang.

Affiliation

Chen ZX; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Jia WN; NHC Key Laboratory of Myopia (Fudan University); Key Laboratory of Myopia, Chinese Academy of Medical Sciences, Shanghai, China.
Jiang YX; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.

Front Genet ; 13: 943083, 2022.

Article in En | MEDLINE | ID: mdl-36176293

Key words

FBN1; dominant negative effect; genotype-phenotype correlation; haploinsufficiency; type I fibrillinopathy

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Front Genet Year: 2022 Type: Article Affiliation country: China

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Front Genet Year: 2022 Type: Article Affiliation country: China