The Wiedemann-Beckwith syndrome and a congenital cataract;Cataracte congénitale et syndrome de Wiedemann-Beckwith

Journal Francais d'Ophtalmologie

Volumn 24, Issue 5, 2001, Pages 479-481

  Momtchilova, M ^a   Pelosse, B ^a   Laroche, L ^a   Vazquez, M P ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Cataract; Wiedemann Beckwith syndrome

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11P; CONGENITAL CATARACT; DISEASE ASSOCIATION; EMBRYONAL CARCINOMA; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GIGANTISM; HEMIHYPERTROPHY; HUMAN; INFANT; MACROGLOSSIA; OMPHALOCELE; PATHOGENESIS; VISCERA;

BECKWITH-WIEDEMANN SYNDROME; CATARACT; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENETIC HETEROGENEITY; HUMANS; INFANT; LINKAGE (GENETICS); MUTATION; PEDIGREE;

EID: 0034995138     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Clinical features in the Wiedemann-Beckwith syndrome
2. The Wiedemann-Beckwith syndrome phenotype and the risk of cancer
3. The genetics of cataract: Our vision becomes clearer
4. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant « zonular pulverulent » cataract, on chromosome 1q
5. Connexin46 mutations in autosomal dominant congenital cataract
6. A point mutation in the Bulge of the Iron-responsive element of the L Ferritin Gene in two families with the hereditary hyperferritinemia cataract syndrome
7. Genotype phenotype correlations in aniridia