Hussein M Alshamrani, Luai M Assaedi, Jumanah A Bahattab, Abdulrahman M Mohammad, Magdy R Abdulghani
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LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.
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.
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