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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Main Authors: | , , , , |
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Format: | Book |
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Hindawi Limited,
2023-01-01T00:00:00Z.
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Call Number: |
A1234.567 |
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Copy 1 | Available |