Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: |
---|
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Sakamoto Masamune et al. Journal of human genetics 2020 Oct |
Targeted carrier screening for four recessive disorders: High detection rate within a founder population. |