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Inventi Impact: Dermatology

Articles

  • Inventi:hdr/67922/23
    LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
    01-Oct-2023 Research 2023 : October-December
    Hussein M Alshamrani, Luai M Assaedi, Jumanah A Bahattab, Abdulrahman M Mohammad, Magdy R Abdulghani

    LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.

    How to Cite this Article
    Attribution/ CC Compliant Citation: Alshamrani, Hussein M., et al. "LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient." Case Reports in Dermatological Medicine 2023 (2023). https://doi.org/10.1155/2023/4161574 http://creativecommons.org/licenses/by/4.0/ Some formatting elements, header, footer, logos, dates and pagination were modified while adapting this article.
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