Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the Connexin 43 gene

International Journal of Oral and Maxillofacial Surgery

Volumn 36, Issue 9, 2007, Pages 858-860

  van Es, R J J ^a   Wittebol Post, D ^a   Beemer, F A ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; CONNEXIN 43; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL EVALUATION; ENAMEL HYPOPLASIA; EXON; FACIES; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MENTAL DEFICIENCY; METABOLIC DISORDER; OCULODENTODIGITAL SYNDROME; PHENOTYPE; RETROGNATHIA; SCHOOL CHILD; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CONNEXIN 43; CRANIOFACIAL ABNORMALITIES; DENTAL ENAMEL HYPOPLASIA; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FACIES; FEMALE; HUMANS; ODONTODYSPLASIA; RETROGNATHISM; SYNDACTYLY;

EID: 34548513541     PISSN: 09015027     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijom.2007.03.004     Document Type: Article

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