Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene

Acta Paediatrica, International Journal of Paediatrics

Volumn 100, Issue 1, 2011, Pages 128-133

  Fryssira, Helen ^a   Kakourou, Talia ^a   Valari, Manthoula ^b   Stefanaki, Kaliopi ^b   Amenta, Stella ^a   Kanavakis, Emmanuel ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Incontinentia pigmenti; NF B essential modulator gene; p.Gln332X mutation; Skewed X inactivation

Indexed keywords

ALOPECIA; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; DENTITION; DEVELOPMENTAL DISORDER; DNA DETERMINATION; EXON; EYE EXAMINATION; FEMALE; GENE; GENE DELETION; GENE MUTATION; GREECE; HUMAN; HYPERPIGMENTATION; IKBKG GENE; INCONTINENTIA PIGMENTI; INFANT; MICROCEPHALY; NEUROLOGIC EXAMINATION; NEWBORN; ORTHODONTICS; PRIORITY JOURNAL; SKIN BIOPSY; STRABISMUS; VERRUCOUS LESION; VESICULAR RASH; X CHROMOSOME;

CODON, NONSENSE; FEMALE; GREECE; HETEROZYGOTE; HUMANS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; INFANT; INFANT, NEWBORN; MOTHERS; RETROSPECTIVE STUDIES;

EID: 78650094848     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2010.01921.x     Document Type: Article

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