Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type ii

Molecular Vision

Volumn 18, Issue , 2012, Pages 211-218

  Haghighi, Alireza ^a   Verdin, Hannah ^b   Haghighi Kakhki, Hamidreza ^c   Piri, Niloofar ^d   Gohari, Nasrollah Saleh ^e   de Baere, Elfride ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ISLAMIC AZAD UNIVERSITY   (Iran)

^d ARDABIL UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e Kerman University of Medical   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMBLYOPIA; ARTICLE; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME TYPE II; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EYELID DISEASE; FEMALE; FORKHEAD BOX L2 GENE; GENE; GENE LOCATION; GENE SEQUENCE; GENE TARGETING; GENETIC CODE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; IRAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TRANSACTIVATION; VISUAL ACUITY;

BASE SEQUENCE; BLEPHAROPHIMOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENES, DOMINANT; GENETIC LINKAGE; GENOTYPE; HETEROZYGOTE; HUMANS; IRAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEVERITY OF ILLNESS INDEX; SKIN ABNORMALITIES;

EID: 84856786637     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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