A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation

Japanese Journal of Ophthalmology

Volumn 53, Issue 5, 2009, Pages 541-545

  Himi, Momoko ^a   Fujimaki, Takuro ^a   Yokoyama, Toshiyuki ^a   Fujiki, Keiko ^a   Takizawa, Toshiaki ^b   Murakami, Akira ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b Takizawa Dental Clinic   (Japan)

Author keywords

Connexin 43; GJA1; Oculodentodigital dysplasia syndrome (ODDD)

Indexed keywords

CONNEXIN 43;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE; HUMAN; JAPANESE; MICROPHTHALMIA; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; OCULODENTODIGITAL SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD; SYNDACTYLY; VISUAL ACUITY; VISUAL DISORDER;

ANTERIOR CHAMBER; CHILD; CONNEXIN 43; DENTAL ENAMEL HYPOPLASIA; EXONS; EYEGLASSES; FEMALE; HUMANS; MICROPHTHALMOS; NOSE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNDACTYLY; VISION DISORDERS; VISUAL ACUITY;

EID: 77749259043     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-009-0711-6     Document Type: Article

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