Genotype-phenotype correlations with TGM1: Clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis

British Journal of Dermatology

Volumn 162, Issue 2, 2010, Pages 448-451

  Hackett, B C ^a   Fitzgerald, D ^a   Watson, R M ^a   Hol, F A ^b   Irvine, A D ^a,c  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

Collodian baby; Genotype; Ichthyosis; Phenotype; TGMI

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; BATHING SUIT ICHTHYOSIS; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ICHTHYOSIS; LAMELLAR ICHTHYOSIS; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL;

COLLODION; DISEASES IN TWINS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; REMISSION, SPONTANEOUS; TEMPERATURE; TRANSGLUTAMINASES;

EID: 74349129473     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09537.x     Document Type: Article

References (8)

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