eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ichthyosis bullosa of siemens |
| Comorbidity | C0870082|hyperkeratosis |
| Sentences | 1 |
| PubMedID- 23623204 | Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of siemens is related to specific mutation in 2b domain of krt1. |
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