The genetic architecture of microphthalmia, anophthalmia and coloboma

European Journal of Medical Genetics

Volumn 57, Issue 8, 2014, Pages 369-380

  Williamson, Kathleen A ^a   FitzPatrick, David R ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Anophthalmia; Coloboma; Developmental eye defects; Eye genes; Microphthalmia; Mutation; OTX2; SOX2

Indexed keywords

ABCB6 GENE; ALDH1A3 GENE; ANOPHTHALMIA; ARTICLE; ATOH7 GENE; BMP2 GENE; BMP4 GENE; C12ORF57 GENE; COLOBOMA; FOXE3 GENE; GDF3 GENE; GDF6 GENE; GENE; GENE FREQUENCY; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MICROPHTHALMIA; OTX2 GENE; PAX6 GENE; PHENOTYPE; RARB GENE; RAX GENE; SALL2 GENE; SOX2 GENE; STRA6 GENE; TENM3 GENE; VAX1 GENE; VSX2 GENE; YAP1 GENE; ALLELE; GENETICS; MUTATION;

ALLELES; ANOPHTHALMOS; COLOBOMA; HUMANS; MICROPHTHALMOS; MUTATION;

EID: 84907326425     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.05.002     Document Type: Article

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