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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ichthyosis, x linked
Comorbidity C2717836|steroid sulfatase deficiency
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PubMedID- 21931015 Conclusions: steroid sulfatase deficiency is a cause of x-linked ichthyosis; however, our patient also had retinitis pigmentosa, seizures, and abnormal hair findings.

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