A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family

O. Eytan, O. Sarig, S. Israeli, B. Mevorah, L. Basel-Vanagaite, E. Sprecher*

*Corresponding author for this work

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13 Scopus citations

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Medicine and Dentistry

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