Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2258-2265

  Kantaputra, Piranit Nik ^a,b   Chinadet, Wannapa ^a   Ohazama, Atsushi ^c   Kono, Michihiro ^d  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b Dentaland Clinic   (Thailand)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Dens evaginatus; Dens invaginatus; Dental anomaly; DSRAD; Hair growth; Keratinocyte; Melanin; Pigment anomalies; Tooth

Indexed keywords

ADENINE; CYTOSINE; GENOMIC DNA;

ADAR1 GENE; ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CHILD; DENS EVAGINATUS; DNA EXTRACTION; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; EMBRYO; FEMALE; FOREARM; GENE; GENE EXPRESSION; GENE MUTATION; GENODERMATOSIS; HAIR COLOR; HAIR DISEASE; HAIR GROWTH; HAIR HYPERPIGMENTATION; HAIR HYPOPIGMENTATION; HUMAN; IN SITU HYBRIDIZATION; INCISOR; INTRON; KERATINOCYTE; MALE; MANDIBLE; MAXILLA; MOUSE; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PIGMENT DISORDER; PREMOLAR TOOTH; PRIORITY JOURNAL; SCHOOL CHILD; SKIN COLOR; TOOTH MALFORMATION; TRANSMISSION ELECTRON MICROSCOPY;

ADENOSINE DEAMINASE; ADOLESCENT; ADULT; CHILD; FEMALE; HAIR; HAIR COLOR; HUMANS; IN SITU HYBRIDIZATION; JAW; MICROSCOPY, ELECTRON, SCANNING; MUTATION; PIGMENTATION DISORDERS; TOOTH ABNORMALITIES;

EID: 84865564491     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35488     Document Type: Article

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