Activity
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6 actions
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| Aortopathy_Connective Tissue Disorders v0.143 | LTBP4 | Zornitza Stark Marked gene: LTBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.143 | LTBP4 | Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.143 | LTBP4 | Zornitza Stark Classified gene: LTBP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.143 | LTBP4 | Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.138 | LTBP4 | Ain Roesley edited their review of gene: LTBP4: Changed publications: 22829427; Changed phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.138 | LTBP4 |
Ain Roesley gene: LTBP4 was added gene: LTBP4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP4 were set to PMID: 22829427 Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC (MIM# 613177) Penetrance for gene: LTBP4 were set to unknown Review for gene: LTBP4 was set to GREEN Added comment: PMID: 22829427; - 9 families with cutis laxa, either homozygotes or cHets. - all PTVs except 1 homozygous missense - Most LTBP4 mutation positive patients (11/13) had generalized moderate to severe cutis laxa, skin was hyperextensible, or appeared translucent with a prominent venous pattern (3/9), few patients had thin and slowly growing hair and inguinal and diaphragmatic hernias (5/9) Sources: Literature |
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