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| Pneumothorax v0.8 | FBLN5 | Bryony Thompson Marked gene: FBLN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.8 | FBLN5 | Bryony Thompson Gene: fbln5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.8 | FBLN5 |
Bryony Thompson gene: FBLN5 was added gene: FBLN5 was added to Pneumothorax. Sources: Other Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBLN5 were set to 21152794; 30681372 Phenotypes for gene: FBLN5 were set to cutis laxa MONDO:0016175 Review for gene: FBLN5 was set to RED Added comment: Spontaneous pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single cutis laxa case with biallelic variants and a previous history of spontaneous pneumothorax has been reported. Sources: Other |
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