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  • Title: X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.
    Author: Limon J, Filipiuk J, Nedoszytko B, Mrózek K, Castrén M, Larramendy M, Roszkiewicz J.
    Journal: Hum Genet; 1991 Jul; 87(3):338-40. PubMed ID: 1864610.
    Abstract:
    A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.
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