Litcius/Paper detail

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

Nobuhiko Okamoto, Fuyuki Miya, Yukihiro Kitai, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Kenjiro Kosaki

2021Neurological Sciences10 citationsDOI

Topics & Concepts

ProbandChoreaDystoniaChoreoathetosisExome sequencingIntellectual disabilityMovement disordersAthetosisGeneticsNeurologyMutationDyskinesiaMedicinePediatricsBiologyPsychiatryPathologyGeneDiseaseParkinson's diseaseGenomics and Rare DiseasesNeurological disorders and treatmentsIon channel regulation and function
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability | Litcius