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| Epidermolysis bullosa and congenital skin fragility v1.33 | LAMC2 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) |
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| Epidermolysis bullosa and congenital skin fragility v1.33 | LAMC2 | Ivone Leong Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | LAMC2 |
Ellen McDonagh gene: LAMC2 was added gene: LAMC2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMC2 were set to 20336083; 11564184; 8012393; 16473856; 10951251; 11810295; 11907499; 8012394 Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) |
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