eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cednik syndrome |
| Comorbidity | C0020757|ichthyosis |
| Sentences | 1 |
| PubMedID- 21816950 | The corresponding protein, snap29, has been suggested to mediate lipid transport within the epidermis and the deficiency of snap29 expression results in syndromic ichthyosis in patients with cednik syndrome (rapaport et al., 2010; sprecher et al., 2005). |
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