A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

Mov Disord Clin Pract. 2021 Jul 31;8(7):1140-1143. doi: 10.1002/mdc3.13310. eCollection 2021 Oct.

Authors

Rauan Kaiyrzhanov¹, Maha S Zaki², Reza Maroofian¹, Natalia Dominik¹, Aboulfazl Rad³, Barbara Vona³, Henry Houlden¹

Affiliations

¹ Department of Neuromuscular Disorders University College London, Institute of Neurology London United Kingdom.
² Human Genetics and Genome Research Division, Clinical Genetics Department National Research Centre Cairo Egypt.
³ Department of Otolaryngology-Head & Neck Surgery Tübingen Hearing Research Centre, Eberhard Karls University Tübingen Tübingen Germany.

No abstract available

Keywords: ADCY5; autosomal recessive; dystonia; movement disorders; neurodevelopmental disorder.

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