Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene-Reference-Cited by-同舟云学术

Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene

Published:2001-04-24 Issue:5 Volume:160 Page:296-299
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:
Short-container-title:European Journal of Pediatrics

Author:

Zankl Andreas,Addor Marie-Claude,Cousin Pascal,Gaide Anne-Claude,Gudinchet François,Schorderet Daniel F.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s004310100738.pdf

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3. First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth;Clinica Chimica Acta;2017-12

4. Generation and Characterization of Function-blocking Anti-ectodysplasin A (EDA) Monoclonal Antibodies That Induce Ectodermal Dysplasia;Journal of Biological Chemistry;2014-02

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