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Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
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 4‐day‐old patient who presented with alope...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084297/ https://www.ncbi.nlm.nih.gov/pubmed/35830358 http://dx.doi.org/10.1111/pde.15064 |