A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome
نویسندگان
چکیده
LEOPARD syndrome (LS) is a congenital developmental disorder and is an acronym for multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness (1). These clinical features overlap those of Noonan syndrome (NS), and heterozygous germline PTPN11 mutations have been identifi ed in approximately 45% of NS patients and in >80% of LS patients (1). Herein, we report a novel mutation of PTPN11 in a female with LS.
منابع مشابه
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