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Athelia in a female infant heterozygous for anhidrotic ectodermal dysplasia

โœ Scribed by Uta Burck; Karsten R. Held


Book ID
119839118
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
398 KB
Volume
19
Category
Article
ISSN
0009-9163

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X-linked anhidrotic ectodermal dysplasia
โœ Janusz Limon; Jadwiga Filipiuk; Bogustaw Nedoszytko; Krzysztof Mrรณzek; Maija Cas ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 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.