X-linked anhidrotic ectodermal dysplasia
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Janusz Limon; Jadwiga Filipiuk; Bogustaw Nedoszytko; Krzysztof Mrรณzek; Maija Cas
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Article
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1991
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Springer
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English
โ 582 KB
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 Xql3.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.