Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201675.pdf
Reference45 articles.
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3. Blüschke, G., Nüsken, K. D. & Schneider, H. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. Early Hum. Dev. 86, 397–399 (2010).
4. Clarke, A., Phillips, D. I., Brown, R. & Harper, P. S. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch. Dis. Child 62, 989–996 (1987).
5. Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S. et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum. Mutat. 32, 70–72 (2011).
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