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Title
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
Authors
Gimelli G; Giglio S; Zuffardi O; Alhonen L; Suppola S; Cusano R; Lo Nigro C; Gatti R; Ravazzolo R; Seri M