An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
نویسندگان
چکیده
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
منابع مشابه
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the ...
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ورودعنوان ژورنال:
- Molecular syndromology
دوره 1 3 شماره
صفحات -
تاریخ انتشار 2010