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 esta...

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Bibliographic Details
Main Authors: Hussein M. Alshamrani (Author), Luai M. Assaedi (Author), Jumanah A. Bahattab (Author), Abdulrahman M. Mohammad (Author), Magdy R. Abdulghani (Author)
Format: Book
Published: Hindawi Limited, 2023-01-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available