Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

doi:10.1002/mds.29883

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Article

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2024

Ortigoza-Escobar Juan Darío, Zamani Mina, Dorison Nathalie, Sadeghian Saeid, Azizimalamiri Reza, Alvi Javeria Raza, Sultan Tipu, Galehdari Hamid, Shariati Gholamreza, Saberi Alihossein, Leeuwen Lisette, Zifarelli Giovanni, Bauer Peter, d'Hardemare Vincent, Doummar Diane, Roze Emmanuel, Travaglini Lorena, Nicita Francesco, Ojea Ponce Núria, Zahraei Seyed Mohammadsaleh, Alabdi Lama, Tamim Abdullah, Hashem Mais O, Ababneh Faroug, Morrow Michelle M, Curry Cynthia, Tam Allison, Ruedy Jessica, Bhambhani Vikas, Veith Regan, Strømme Petter, Efthymiou Stephanie, Alkuraya Fowzan S, Moreno-De-Luca Andres, Burglen Lydie, Houlden Henry, Maroofian Reza

Abstract excerpt

BACKGROUND: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). OBJECTIVE: The aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities. METHODS: Thirteen new and 16 previously reported...

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PMID: 38899514
DOI: 10.1002/mds.29883

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