PedAM
Pediatric Disease Annotations & Medicines
| Disease | epidermolysis bullosa |
| Phenotype | C0751882|congenital myasthenic syndrome |
| Sentences | 1 |
| PubMedID- 21175599 | congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in plec1 and chrne. |
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