Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
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DOI: 10.1111/pde.15064
Abstract: Lanosterol synthase is required for cholesterol synthesis, and deficiencies have been associated with hypotrichosis as well as neuroectodermal syndromes including intellectual delay and epilepsy. Here, we report a case of lanosterol synthase deficiency in a… read more here.
Keywords: synthase; alopecia hyperpigmentation; lanosterol synthase; patient ... See more keywords