Compound Heterozygosity for New Splice Site Mutations in the Plakophilin 1 Gene ( PKP1) in a Chinese Case of Ectodermal Dysplasia–Skin Fragility Syndrome

By Zheng Rui   Bu Ding   Zhu Xue  

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Medical Journals Limited

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A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia

By Zhang X.-J.   Chen J.-J.   Yang S.   Cui Y.   Xiong X.-Y.   He P.-P.   Dong P.-L.   Xu S.-J.   Li Y.-B.   Zhou Q.   Wang Y.   Huang W.  

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A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

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Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations

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Acta Dermato-Venereologica, Vol. 95, Iss. 7, 2015-09 ,pp. : 849-851

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Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome

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