Article
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
American journal of medical genetics. Part A - 1 Nov 2021
McMillan Hugh J, Davila Jorge, Osmond Matt, Chakraborty Pranesh, Boycott Kym M, Dyment David A, Kernohan Kristin D
Abstract excerpt
Biallelic pathogenic variants in RNU4ATAC have been linked to microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Although children with MOPD1 have been reported to show profound, life-limiting clinical decompensation at the time of a febrile illness, these episodes including magnetic resonance imaging (MRI) findings have not been well characterized. We present acute MRI brain findings for a...
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