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| Epidermolysis bullosa v1.1 | DSG3 | Zornitza Stark Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.0 | DSG3 | Zornitza Stark edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.40 | DSG3 | Zornitza Stark Marked gene: DSG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.40 | DSG3 | Zornitza Stark Gene: dsg3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.40 | DSG3 |
Zornitza Stark gene: DSG3 was added gene: DSG3 was added to Epidermolysis bullosa. Sources: Expert list Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG3 were set to 30528827 Phenotypes for gene: DSG3 were set to Mucosal blistering Review for gene: DSG3 was set to RED Added comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*). Sources: Expert list |
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