title: Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset.
abstract: We report the case of a 3-month-old full-term, breast-fed infant with clinical and laboratorial findings consistent with acrodermatitis enteropathica. In addition, the mother had low zinc levels in her breast milk. Mutation analysis revealed a novel insertion in the SLC39A4 gene.
authors: Dermatology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
authors: Felicidade
authors: F
authors: Santiago
authors: Dermatology Department, Hospital São Teotónio, Viseu, Portugal.
authors: José
authors: J
authors: Matos
authors: Dermatology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
authors: Ana
authors: A
authors: Moreno
authors: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors: Sébastien
authors: S
authors: Schmitt
authors: Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
authors: Stéphane
authors: S
authors: Bézieau
authors: Dermatology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
authors: Oscar
authors: O
authors: Tellechea
mesh_terms: D000169:Acrodermatitis / Q000188:drug therapy / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D019587:Dietary Supplements; D005091:Exons; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008895:Milk, Human / Q000737:chemistry; D009154:Mutation; D016896:Treatment Outcome; D015032:Zinc / Q000097:blood / Q000172:deficiency; D019287:Zinc Sulfate / Q000627:therapeutic use
chemical_list: D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D019287:Zinc Sulfate; D015032:Zinc