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Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability

Bibliographic reference Giehl, Kathrin ; Herzinger, Thomas ; Wolff, Hans ; Sárdy, Miklós ; von Braunmühl, Tanja ; et. al. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. In: Acta Dermato-Venereologica, Vol. 96, no. 4, p. 468-472 (2016)
Permanent URL http://hdl.handle.net/2078.1/171976