XXYLT1 and Mendelian Retinal Dystrophy
Findings support the need to include XXYLT1 in clinical IRD gene panels, one of the identified genes, as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts.
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Findings support the need to include XXYLT1 in clinical IRD gene panels, one of the identified genes, as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts.
The discovery of a family with six affected members carrying a heterozygous loss- of-function variant in INTS6 highlights the critical role of INTS6 in transcriptional regulation of human neurodevelopment and reinforces its association with NDDs.
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