Compound Heterozygosity for New Splice Site Mutations in the Plakophilin 1 Gene ( PKP1) in a Chinese Case of Ectodermal Dysplasia–Skin Fragility Syndrome
Open Access
- 1 September 2005
- journal article
- case report
- Published by Medical Journals Sweden AB in Acta Dermato-Venereologica
- Vol. 85 (5) , 394-399
- https://doi.org/10.1080/00015550510037684
Abstract
Ectodermal dysplasia-skin fragility syndrome is a rare autosomal recessive inherited disease charact...Keywords
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