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Moritz J. Paha

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Articles

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency

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By Arshi Mustafa, Sandy Richter, Linnaeus Bundalian, Akhil Velluva, Robin-Tobias Jauss, Knut Krohn Verified, Max Holzer, Anna S. Kirstein, Meena Balasubramanian, María Juliana Ballesta-Martínez, Lynne M. Bird, Kirsty Bradshaw, Ange-Line Bruel, Alfredo Brusco, Yanmin Chen, Aurore Garde, Yoel Gofin, Rachel Harrison, Alexis Heidlebaugh, Anna Hurst, Julian A Martinez-Agosto, Jessica Mester, Alistair T. Pagnamenta, Andrea Paras, Angela Peron, Tiziana Pisano, Sui Yang, Slavica Trajkova, Tianyun Wang, Rami Abou Jamra, Johannes R. Lemke, Wieland Kiess, Konstantinos Zarbalis, Antje Garten, Diana Le Duc, Moritz J. Paha, Lyvin Tat, Sworadip Chowdhury, Kathleen Schön, Silvia Guarducci, Marilena Pantaleo, Ahna M. Rabani, Elena Shukarova-Angelovska, Sheila Umayam
| Nature Verified
Abstract We provide a comprehensive phenotypic characterization of loss-of-function (LoF) variants in WDFY3 based on the largest cohort reported to date (n = 32). Our findings define a monogenic disorder marked by neuropsychiatric features (including autism and ADHD), mild to moderate neurodevelopmental delay, and variable brain growth – most commonly macrocephaly and in one case reduced head circumference.
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