Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1798-1802

  Birkenhäger, Ralf ^a   Lüblinghoff, Nicola ^a   Prera, Erick ^a   Schild, Christian ^a   Aschendorff, Antje ^a   Arndt, Susan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Connexin 26; GJB2; Hearing impairment; Hearing loss; Palmoplantar keratoderma

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; ELECTROCOCHLEOGRAPHY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HEARING AID; HEARING LOSS; HEARING TEST; HETEROZYGOTE; HUMAN; MALE; PALMOPLANTAR KERATODERMA; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SPEECH AUDIOMETRY; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHEMISTRY; COMPLICATION; DOMINANT GENE; FAMILY; GENETIC HETEROGENEITY; GENETICS; HEARING IMPAIRMENT; INFANT; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PREGNANCY; SKIN; SYNDROME;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; HUMANS; INFANT; INFANT, NEWBORN; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PREGNANCY; SKIN; SYNDROME;

EID: 77954097184     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33464     Document Type: Article

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