Mutational analysis of SDCCAG8 in bardet-biedl syndrome patients with renal involvement and absent polydactyly

Ophthalmic Genetics

Volumn 33, Issue 3, 2012, Pages 150-154

  Billingsley, Gail ^a   Vincent, Ajoy ^a   Deveault, Catherine ^a   Héon, Elise ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Bardet Biedl syndrome; Ciliopathy; Phenotype; SDCCAG8

Indexed keywords

SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 8; TUMOR ANTIGEN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ASTHMA; AUTOFLUORESCENCE; BARDET BIEDL SYNDROME; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAPHY; FEMALE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; INDIAN; KIDNEY AGENESIS; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MULTICYSTIC DYSPLASTIC KIDNEY; MUTATIONAL ANALYSIS; NONALCOHOLIC FATTY LIVER; NUCLEOTIDE SEQUENCE; OBESITY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PATIENT ASSESSMENT; PEDIGREE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA FOVEA; RETINA ROD; RETINITIS PIGMENTOSA; REVIEW; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SIBLING; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; AUTOANTIGENS; BARDET-BIEDL SYNDROME; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; KIDNEY DISEASES; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; POLYDACTYLY; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84864236639     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.689411     Document Type: Review

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