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Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
M Al-Owain, S Wakil, F Shareef, A Al-Fatani, E Hamadah, M Haider, H Al-Hindi, A Awaji, O Khalifa, B Baz, R Ramadhan, B MeyerVolume:
80
Year:
2011
Language:
english
Pages:
9
DOI:
10.1111/j.1399-0004.2010.01518.x
File:
PDF, 875 KB
english, 2011