ALLMedicine™ Ataxia-oculomotor Apraxia Type 4 Center
Research & Reviews 2 results
Fetal and Pediatric Pathology; Bitarafan F, Khodaeian M et. al.
Nov 12th, 2019 - Pathogenic variants within polynucleotide kinase 3'phosphatase (PNKP) gene cause microcephaly, seizures, and developmental delay (MCSZ) and ataxia-oculomotor apraxia type 4 (AOA4) disorders due to unrepaired DNA lesions. Whole exome sequencing was...
Journal of Neurogenetics; Schiess N, Zee DS et. al.
May 30th, 2017 - The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a ...