Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism
Movement Disorders Clinical Practice2021Vol. 8(8), pp. 1253–1257
Citations Over TimeTop 19% of 2021 papers
Ghalia Al‐Kasbi, Abeer Al‐Saegh, Ahmed Al‐Qassabi, Tariq Al Jabry, Fahad Zadjali, Said Al‐Yahyaee, Almundher Al‐Maawali
Abstract
We provide further evidence that PTRHD1 mutations are associated with autosomal-recessive childhood-onset intellectual disability associated with spasticity and parkinsonism.
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