title: ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.
authors: Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan.
authors: Yukako
authors: Y
authors: Inoue
authors: Masaaki
authors: M
authors: Yamamoto
authors: Yoshiko
authors: Y
authors: Sakaguchi
authors: Orie
authors: O
authors: Jitsukawa
authors: Katsunori
authors: K
authors: Hayano
authors: Masayuki
authors: M
authors: Yamane
authors: Michiko
authors: M
authors: Sakamoto
authors: Kiyofumi
authors: K
authors: Yamanishi
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D054643:INDEL Mutation; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters