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Case Reports
. 1991 Jul;87(3):338-40.
doi: 10.1007/BF00200916.

X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

J Limon  1 , J Filipiuk, B Nedoszytko, K Mrózek, M Castrén, M Larramendy, J Roszkiewicz
Affiliations
Case Reports

X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

J Limon et al. Hum Genet. 1991 Jul.

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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