Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Wonkam, Ambroise ^a,b   Noubiap, Jean Jacques N ^b   Bosch, Jason ^a   Dandara, Collet ^a   Toure, Geneviève Bengono ^b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF YAOUNDÉ I   (Cameroon)

Author keywords

Africa; Cameroon; GJB2 gene; KID syndrome; p.Asp50Asn mutation

Indexed keywords

CONNEXIN 26; GENOMIC DNA; GAP JUNCTION PROTEIN;

ALOPECIA; ARTICLE; CASE REPORT; CHILD; CONGENITAL DEAFNESS; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JOINT MOBILITY; KERATITIS; MOLECULAR DIAGNOSIS; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRESCHOOL CHILD; SYNDROME KID; TOOTH MALFORMATION; AFRICA SOUTH OF THE SAHARA; CAMEROON; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETICS; HEARING IMPAIRMENT; ICHTHYOSIS; MUTATION; PERCEPTION DEAFNESS;

AFRICA SOUTH OF THE SAHARA; CAMEROON; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ICHTHYOSIS; KERATITIS; MUTATION;

EID: 84881052849     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-81     Document Type: Article

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