Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
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J. McGrath | A. Christiano | L. Pulkkinen | N. Whittock | R. Eady | W. McLean | H. Wan | L. Kristal | S. Morley | J. Uitto | M. Garzón | P. Hyde | W. Mclean | M. Garzon