Oculo-dento-digital dysplasia: Lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging

European Journal of Medical Genetics

Volumn 53, Issue 1, 2010, Pages 19-22

  Alao, M J ^a,b,c   Bonneau, D ^d   Holder Espinasse, M ^e   Goizet, C ^a,b   Manouvrier Hanu, S ^e   Mezel, A ^e   Petit, F ^e   Subtil, D ^e   Magdelaine, C ^f   Lacombe, D ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b HÔPITAL PELLEGRIN   (France)

^c Service de Pédiatrie et Génétique Médicale   (Benin)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

Connexin 43 gene; Genotype phenotype correlation; Neuro imaging; Oculo dento digital dysplasia

Indexed keywords

CONNEXIN 43;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; ENAMEL HYPOPLASIA; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GJA1 GENE; HUMAN; HYPOSPADIAS; MALE; MENTAL DEFICIENCY; MICROPHTHALMIA; NEUROIMAGING; NEURORADIOLOGY; OCULODENTODIGITAL SYNDROME; OPTIC NERVE ATROPHY; PALMOPLANTAR KERATODERMA; PENETRANCE; PRENATAL DEVELOPMENT; PRESCHOOL CHILD; SYNDACTYLY; WHITE MATTER;

EID: 74249098017     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.08.007     Document Type: Article

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