Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN.
Giehl KA, et al. Among authors: sardy m.
Acta Derm Venereol. 2016 May;96(4):468-72. doi: 10.2340/00015555-2304.
Acta Derm Venereol. 2016.
PMID: 26608363
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