Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: A novel developmental disorder in Gypsies maps to 18qter

European Journal of Human Genetics

Volumn 7, Issue 5, 1999, Pages 560-566

  Angelicheva, Dora ^a   Turnev, Ivailo ^b   Dye, Danielle ^a   Chandler, David ^a   Thomas, P K ^c   Kalaydjieva, Luba ^a  

^a EDITH COWAN UNIVERSITY   (Australia)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Developmental disorder; Gene mapping; Genetic isolate; Gypsies; Hypomyelinating neuropathy

Indexed keywords

ADULT; ARTICLE; BULGARIA; CHROMOSOME 18Q; CLINICAL ARTICLE; CONGENITAL CATARACT; DEVELOPMENTAL DISORDER; DROSOPHILA; EXPRESSED SEQUENCE TAG; FACE DYSMORPHIA; FOUNDER EFFECT; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GIPSY; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; NEUROPATHY; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SYNDROME DELINEATION;

ADOLESCENT; ADULT; CATARACT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; FACE; FEMALE; FOUNDER EFFECT; GENETIC HETEROGENEITY; GYPSIES; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; NERVOUS SYSTEM DISEASES; PEDIGREE; PHENOTYPE; SYNDROME;

VERTEBRATA;

EID: 0032787807     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200319     Document Type: Article

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