eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | aplasia cutis congenita |
| Comorbidity | C0014527|epidermolysis bullosa |
| Sentences | 3 |
| PubMedID- 26094555 | Results: generalized severe junctional epidermolysis bullosa with congenital absence of skin was described in all lambs studied and an autosomal recessive mode of inheritance was identified. |
| PubMedID- 25955497 | Furthermore, the identification of the itgb4 mutation means that affected sheep can be used as a large mammal animal model for the human form of epidermolysis bullosa with aplasia cutis. |
| PubMedID- 24252097 | aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. |
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