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About 5 results

ALLMedicine™ Ataxia-oculomotor Apraxia Type 4 Center

Research & Reviews  2 results

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Sei...
https://doi.org/10.1080/15513815.2019.1686784
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...

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.
https://doi.org/10.1080/01677063.2017.1322079
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 ...

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