Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: A case of Senior-Loken syndrome

The Lancet

Volumn 385, Issue 9980, 2015, Pages 1916-

  Ellingford, Jamie M ^a   Sergouniotis, Panagiotis I ^a   Lennon, Rachel ^a   Bhaskar, Sanjeev ^a   Williams, Simon G ^a   Hillman, Kate A ^a   O'Sullivan, James ^a   Hall, Georgina ^a   Ramsden, Simon C ^a   Lloyd, I Christopher ^a   Woolf, Adrian S ^a   Black, Graeme C M ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IQCB1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

CHRONIC KIDNEY DISEASE; EUKARYOTIC FLAGELLUM; EXOME; EYE MOVEMENT; FATIGUE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC SCREENING; HEMODIALYSIS; HUMAN; KIDNEY TRANSPLANTATION; NAUSEA; NEPHRONOPHTHISIS; NOCTURNAL ENURESIS; NOTE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RETINA DYSTROPHY; SENIOR LOKEN SYNDROME; VISUAL DISORDER; CASE REPORT; DNA SEQUENCE; EARLY DIAGNOSIS; EYE DISEASES, HEREDITARY; FEMALE; FOLLOW UP; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; KIDNEY DISEASES, CYSTIC; LEBER CONGENITAL AMAUROSIS; MALE; OPTIC ATROPHIES, HEREDITARY; PROCEDURES; RETINAL DYSTROPHIES;

EARLY DIAGNOSIS; EXOME; EYE DISEASES, HEREDITARY; FEMALE; FOLLOW-UP STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; LEBER CONGENITAL AMAUROSIS; MALE; OPTIC ATROPHIES, HEREDITARY; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA;

EID: 84929347074     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(15)60496-2     Document Type: Article

References (5)

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