Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions - Vakkilainen, S; Puhakka, L; Klemetti, P; Heiskanen, K; Seppänen, M; Muona, M; Posseme, C; Duffy, D; Väisänen, T; Elomaa, O; Palomäki, M; Saxén, H; et al. (Acta dermato-venereologica, 2019)
Keywords: Brain Diseases - diagnostic imaging; Brain Diseases - genetics; Child, Preschool; Dermatitis, Exfoliative - diagnosis; Dermatitis, Exfoliative - drug therapy; Dermatitis, Exfoliative - genetics; Dermatologic Agents - therapeutic use; desmoglein; desmoplakin; Desmoplakins - genetics; Failure to Thrive - diagnosis; Failure to Thrive - genetics; Genetic Predisposition to Disease; Genetic Variation; Herpes Simplex - diagnosis; Herpes Simplex - genetics; Herpes Simplex - virology; Humans; Ichthyosis - diagnosis; Ichthyosis - drug therapy; Ichthyosis - genetics; Immunology; Infant; Infant, Newborn; Life Sciences; Male; metabolic wasting; Phenotype; SAM syndrome; severe dermatitis; Severity of Illness Index; Treatment Outcome; Ustekinumab - therapeutic use; desmoplakin; SAM syndrome; metabolic wasting; severe dermatitis; desmoglein