Shq1-associated neurodevelopmental disorder: report of the first homozygous variant in unrelated patients and review of the literature

HIGHLIGHTS

• who: Aljouhra AlHargan from the (UNIVERSITY) have published the paper: SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature, in the Journal: (JOURNAL) of 11/Oct/2022
• what: The study reports the first SHQ1 homoallelic variant in three patients from two separate unrelated families who presented with global developmental delay, ataxia, and seizure disorder.

SUMMARY

Shq1 has been identified in yeast during the biogenesis of H/ACA ribonucleoproteins (RNPs)1 and has been found to interact with one of the catalytic subunits . . .

 



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