Inherited ichthyoses/generalized Mendelian disorders of cornification

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 123-133

  Schmuth, Matthias ^a   Martinz, Verena ^a   Janecke, Andreas R ^a   Fauth, Christine ^a   Schossig, Anna ^a   Zschocke, Johannes ^a   Gruber, Robert ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Barrier function; corneocytes; differentiation; electron microscopy; epidermal lipids; keratinocytes

Indexed keywords

ANTIBIOTIC AGENT; CORTICOSTEROID; DISINFECTANT AGENT; EMOLLIENT AGENT; ETRETIN; GLYCEROL; GLYCOLIC ACID; ISOTRETINOIN; KERATOLYTIC AGENT; LACTIC ACID; RETINOID; SALICYLIC ACID; UREA; VITAMIN D DERIVATIVE;

ALGORITHM; DERMATOLOGY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; EPIDERMIS; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; HOMEOSTASIS; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; LABORATORY TEST; MENDELIAN DISORDER OF CORNIFICATION; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SAUNA; SKIN DEFECT;

APOPTOSIS; CELL DIFFERENTIATION; CORNEA; DESMOSOMES; DIAGNOSIS, DIFFERENTIAL; HUMANS; ICHTHYOSIS; KERATINOCYTES; MICROSCOPY, ELECTRON; MUTATION; SKIN;

EID: 84872492323     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.121     Document Type: Review

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