A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

Clinical and Experimental Dermatology

Volumn 36, Issue 2, 2011, Pages 142-148

  Koppelhus, U ^a   Tranebjaerg L ^b,c   Esberg, G ^a   Ramsing, M ^a   Lodahl, M ^c   Rendtorff, N D ^c   Olesen, H V ^a   Sommerlund, M ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b BISPEBJERG HOSPITAL   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALBUMIN; AMPICILLIN; AQUACELL; CARBOXYMETHYLCELLULOSE; CONNEXIN 26; EMOLLIENT AGENT; ETRETIN; EXTENDED SPECTRUM BETA LACTAMASE; EYE DROPS; FLUCONAZOLE; FUSIDIC ACID; GENOMIC DNA; GENTAMICIN; MEPITEL; MEROPENEM; PERMANGANATE POTASSIUM; SILICONE; SULFADIAZINE SILVER; TUBIFAST; UNCLASSIFIED DRUG; VALINE; WATER OIL CREAM; ZACTOLIN;

ALOPECIA; AMINO ACID SUBSTITUTION; APNEA; ARTICLE; ARTIFICIAL VENTILATION; ATELECTASIS; AUDIOLOGY; BALNEOTHERAPY; BIOPSY; BLOOD; BRAIN HEMORRHAGE; CASE REPORT; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONJUNCTIVITIS; DISEASE COURSE; DNA EXTRACTION; ECHOGRAPHY; EYELASH; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEARING IMPAIRMENT; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HYDROCEPHALUS; ICHTHYOSIS; INFANT; INFECTION; KERATITIS; KLEBSIELLA PNEUMONIAE; LABORATORY TEST; LUNG INFECTION; MALE; MENINGITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PALMOPLANTAR KERATODERMA; PAPILLOMATOSIS; PARENTERAL NUTRITION; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; RADIODIAGNOSIS; SEPTICEMIA; VERNIX CASEOSA;

ANIMALS; BIOPSY; CONNEXINS; DEAFNESS; DERMATOLOGIC AGENTS; FATAL OUTCOME; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; INFANT, PREMATURE; INFANT, PREMATURE, DISEASES; KERATITIS; MALE; MUTATION; SKIN;

EID: 79951604335     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2010.03936.x     Document Type: Article

References (25)

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