Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

Journal of Investigative Dermatology

Volumn 136, Issue 4, 2016, Pages 875-878

  Kono, Michihiro ^a   Matsumoto, Fumihiro ^b   Suzuki, Yasuhiro ^b   Suganuma, Mutsumi ^a   Saitsu, Hirotomo ^c   Ito, Yasutomo ^a   Fujiwara, Sakuhei ^d   Moriwaki, Shinichi ^e   Matsumoto, Kazuhiko ^f   Matsumoto, Naomichi ^c   Tomita, Yasushi ^a   Sugiura, Kazumitsu ^a   Akiyama, Masashi ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d OITA UNIVERSITY   (Japan)

^e OSAKA MEDICAL COLLEGE   (Japan)

^f SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE ACTING ON RNA 1; DEAMINASE; MESSENGER RNA; RNA; UNCLASSIFIED DRUG; ADAR1 PROTEIN, HUMAN; ADENOSINE DEAMINASE; RNA BINDING PROTEIN;

AICARDI GOUTIERES SYNDROME; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CHILD; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EXON; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; HYPOPIGMENTATION; LIMB; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; SKIN DEFECT; SKIN DISEASE; GENETIC VARIATION; GENETICS; HOMOZYGOTE; INFANT; MOLECULAR GENETICS; MUTATION; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PIGMENTATION DISORDERS;

ADENOSINE DEAMINASE; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BASE SEQUENCE; EXONS; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHENOTYPE; PIGMENTATION DISORDERS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS;

EID: 84978162008     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2015.12.034     Document Type: Article

References (8)

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