LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

• Main Authors: Hussein M. Alshamrani (Author), Luai M. Assaedi (Author), Jumanah A. Bahattab (Author), Abdulrahman M. Mohammad (Author), Magdy R. Abdulghani (Author)
• Formato: Libro
• Publicado: Hindawi Limited, 2023-01-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

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 esta...