Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
نویسندگان
چکیده
Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting that the genes for Noonan syndrome and neurofibromatosis type 1 are not contiguous.
منابع مشابه
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 3 شماره
صفحات -
تاریخ انتشار 1992