Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
نویسندگان
چکیده
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 27 4 شماره
صفحات -
تاریخ انتشار 1990