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GENATLAS PHENOTYPE
last update : 28-12-2018
Symbol ADWH
Location 12q13.13
Name woolly hair disorder
Corresponding gene KRT74
Main clinical features
  • hair shaft disorders that are characterized by fine and tightly curled hair
  • under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends
    • Genetic determination autosomal dominant
    Prevalence 1 family (Shimomura 2010)
    Function/system disorder dermatology
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     p.Asn148Lys, within the helix initiation motif of the keratin 74 (Shimomura 2010)
    Remark(s)