Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma

Gene

Volumn 568, Issue 1, 2015, Pages 76-80

  Pasutto, F ^a   Mauri, L ^b   Popp, B ^a   Sticht, H ^a   Ekici, A ^a   Piozzi, E ^b   Bonfante, A ^c   Penco, S ^b   Schlotzer Schrehardt U ^a   Reis, A ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

^c St Bassiano Hospital   (Italy)

Author keywords

Axenfeld Rieger syndrome; FOXC1; Genetic testing; Glaucoma; Whole exome sequencing

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARBONATE DEHYDRATASE INHIBITOR; DNA BINDING PROTEIN; LYSINE; MITOMYCIN; PROSTAGLANDIN DERIVATIVE; TRANSCRIPTION FACTOR FOXC1; VALINE; FORKHEAD TRANSCRIPTION FACTOR; FOXC1 PROTEIN, HUMAN; PROTEIN BINDING;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BEST CORRECTED VISUAL ACUITY; CASE REPORT; CONGENITAL GLAUCOMA; CYCLOPHOTOCOAGULATION; DNA BINDING; EARLY ONSET GLAUCOMA; EXOME; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GONIOSCOPY; HUMAN; INTRAOCULAR PRESSURE; ITALIAN (CITIZEN); LOSS OF FUNCTION MUTATION; MALE; MILD MYOPIA; MYOPIA; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME; SCLERECTOMY; TRABECULECTOMY; TRABECULOTOMY; TRANSCRIPTION INITIATION; VISUAL ACUITY; AMINO ACID SEQUENCE; ANTERIOR EYE SEGMENT; BINDING SITE; CHEMICAL STRUCTURE; CHEMISTRY; CONGENITAL MALFORMATION; DELAYED DIAGNOSIS; EYE ABNORMALITIES; GENETICS; GLAUCOMA; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PROTEIN SECONDARY STRUCTURE;

ADULT; AMINO ACID SEQUENCE; ANTERIOR EYE SEGMENT; BASE SEQUENCE; BINDING SITES; DELAYED DIAGNOSIS; DNA MUTATIONAL ANALYSIS; EXOME; EYE ABNORMALITIES; FORKHEAD TRANSCRIPTION FACTORS; GLAUCOMA; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY;

EID: 84930868784     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.05.015     Document Type: Article

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