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Multicore myopathy in a patient with anhidrotic ectodermal dysplasia

✍ Scribed by Colin P. Gordon; Sharon Litz


Publisher
Springer-Verlag
Year
1992
Tongue
French
Weight
330 KB
Volume
39
Category
Article
ISSN
1496-8975

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X-linked anhidrotic ectodermal dysplasia
✍ Janusz Limon; Jadwiga Filipiuk; Bogustaw Nedoszytko; Krzysztof MrΓ³zek; Maija Cas πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 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.