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Your search keyword '"Ellingford, Jamie M."' showing total 1 results
Start Over Author "Ellingford, Jamie M." Publisher lancet
1 results on '"Ellingford, Jamie M."'

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

Author

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

Subjects
*RETINAL degeneration, *INFANT diseases, *NUCLEOTIDE sequencing, *NUCLEOTIDES, *ANEMIA in children
Abstract

The article presents a case study of a male infant in 2002 who was diagnosed with non-syndromic infantile-onset retinal dystrophy and whose younger sister in 2006, was also diagnosed the same condition. Whole exome sequencing was used to test the boy's DNA in 2013 and identified a homozygous two-nucleotide delection in the IQCB1 gene. Further investigation of the boy at age twelve proved he has renal impairment and anaemia.

Published
2015
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