Case Reports
doi: 10.1007/BF00200916.
X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female
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- PMID: 1864610
- DOI: 10.1007/BF00200916
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Case Reports
X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female
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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