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
Author:
Funder
Basic Research Program of Shenzhen
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference30 articles.
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3. The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010;Nguyen-Nielsen;Eur. J. Med. Genet.,2013
4. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia;Pääkkönen;Hum. Mutat.,2001
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3. First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?;Italian Journal of Pediatrics;2021-06-02
4. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2021-04-20
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