Diagnostic and molecular genetic challenges in male incontinentia pigmenti: A case report

Acta Dermato-Venereologica

Volumn 93, Issue 6, 2013, Pages 741-742

  Gregersen, Pernille A ^a   Sommerlund, Mette ^b   Ramsing, Mette ^c   Gjørup, Hans ^d   Rasmussen, Anders A ^e   Aggerholm, Anni ^a,c  

^a Departments of Clinical Genetics   (Denmark)

^b Departments of Dermato Venereology   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d Centre for Rare Diseases   (Denmark)

^e LILLEBAELT HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT;

ARTICLE; BLISTER; CASE REPORT; CHILD; DERMATOLOGIST; DISEASE COURSE; DRUG TREATMENT FAILURE; ERYTHEMA; EYE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HISTOPATHOLOGY; HOSPITAL ADMISSION; HOSPITAL READMISSION; HUMAN; HUMAN TISSUE; IMPETIGO BULLOSA; INCONTINENTIA PIGMENTI; KARYOTYPE 46,XY; KARYOTYPE 47,XXY; KARYOTYPING; MALE; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SKIN BIOPSY; STRABISMUS; VITREOUS BODY; X CHROMOSOME; Y CHROMOSOME;

BIOPSY; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; MALE; MOSAICISM; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SKIN;

EID: 84886405332     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.2340/00015555-1593     Document Type: Article

References (11)

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