A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

European Journal of Medical Genetics

Volumn 51, Issue 1, 2008, Pages 35-43

  Jonard, Laurence ^a   Feldmann, Delphine ^a   Parsy, Christophe ^b   Freitag, Sylvie ^b   Sinico, Martine ^c   Koval, Céleste ^a   Grati, Mhamed ^a   Couderc, Remy ^a   Denoyelle, Françoise ^d   Bodemer, Christine ^b   Marlin, Sandrine ^a   Hadj Rabia, Smail ^b  

^a Institut Pasteur   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Connexin 26; G45E; GJB2; Keratitis Ichthyosis Deafness syndrome; KID syndrome; Mosaicism

Indexed keywords

CONNEXIN 26; CONNEXIN 30; G45E PROTEIN; GJB2 PROTEIN; GLUTAMINE; GLYCINE; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

AFRICAN AMERICAN; ARTICLE; CASE REPORT; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE SEVERITY; DIZYGOTIC TWINS; DNA EXTRACTION; DNA SEQUENCE; DOMINANT GENE; ERYTHEMA; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; KERATITIS ICHTHYOSIS DEAFNESS; MICROSATELLITE MARKER; MOSAICISM; NEWBORN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; SEPSIS; SKIN BIOPSY;

CONNEXINS; DEAFNESS; FATAL OUTCOME; FEMALE; HUMANS; ICHTHYOSIS; INFANT; INFANT, NEWBORN; KERATITIS; MALE; MUTATION; SYNDROME; TWINS;

EID: 38749094820     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.09.005     Document Type: Article

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