Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
نویسندگان
چکیده
Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci.
منابع مشابه
7p and 5qter
Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci. (J7 Med Genet 1994;31:219-221) Mothercare Unit of Genetics...
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Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.
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IMPORTANCE Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. Other cutaneous findings have not been thoroughly described. OBSERVATIONS We report 6 cases and summarize the existing literature with regard to the cutaneous manifestat...
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عنوان ژورنال:
- Journal of medical genetics
دوره 31 3 شماره
صفحات -
تاریخ انتشار 1994