Expansion of the clinical ocular spectrum of wolfram syndrome in a family carrying a novel WFS1 gene deletion

Ophthalmic Genetics

Volumn 34, Issue 4, 2013, Pages 243-248

  Chacón Camacho, Oscar ^a   Arce Gonzalez, Rocio ^a   Granillo Alvarez, Mariella ^b   Flores Limas, Sanjuanita ^a   Ramírez, Magdalena ^b   Zenteno, Juan C ^a,c  

^a INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^b HOSPITAL GENERAL DE MÉXICO   (Mexico)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

Microspherophakia; Optic atrophy; WFS1 gene; Wolfram syndrome

Indexed keywords

CHROMOSOME PROTEIN; DNA; NUCLEOTIDE; UNCLASSIFIED DRUG; WFS1 PROTEIN;

ADOLESCENT; ADULT; ANTERIOR EYE SEGMENT; ARTHROGRYPOSIS; ARTICLE; AUDIOMETRY; BILATERAL HEARING LOSS; BILATERAL MICROSPHEROPHAKIA; BIOMICROSCOPY; CASE REPORT; CLINICAL ASSESSMENT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CATARACT; CONGENITAL GLAUCOMA; DIABETES MELLITUS; DISEASE ASSOCIATION; DISEASE DURATION; DIVERGENT STRABISMUS; EXON; EYE DISEASE; EYE EXAMINATION; EYE MALFORMATION; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; GENETIC ANALYSIS; GONIOSCOPY; HOMOZYGOSITY; HUMAN; HYDRONEPHROSIS; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY MALFORMATION; LABORATORY TEST; LEARNING DISORDER; MOLECULAR GENETICS; MYDRIASIS; NEUROGENIC BLADDER; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REFRACTION ERROR; RENOGRAPHY; SEQUENCE ANALYSIS; SIBLING; VISUAL ACUITY; WOLFRAM SYNDROME;

ADOLESCENT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 4; EXONS; EYE ABNORMALITIES; FEMALE; HUMANS; LENS, CRYSTALLINE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE; WOLFRAM SYNDROME; YOUNG ADULT;

EID: 84887901987     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.755631     Document Type: Article

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