3 Novembre 2026

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SCHEDA SCIENTIFICA2026Altra ricerca

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Susan M Hiatt, Wenjing Zhao, Zhongqing Wang, Yingjie Wan, Kewen Chen, Ke Wang, Senwei Tan, Magalie Barth, Gaber Bergant, Thomas Besnard, Emily Boothe, Theresa Brunet, Caleb Bupp, Benjamin Cogne, Julie S Cohen, Christine Coubes, Bert B A de Vries, Madison Donald, Colin A Ellis, Stephanie Riley Eriksson, Benjamin Ganne, David Genevieve, Benedicte Gerard, Aixa Gonzalez Garcia, Laura G Hendon, Noa Henig, Kristina Huss, Bertrand Isidor, Taylor Laut, Benjamin R Leadem, Elysa J Marco, Daphna Marom, Saadet Mercimek-Andrews, Alison M Muir, Benjamin Navet, Slavica Ostojić, Borut Peterlin, Rolph Pfundt, Anna Prentice, Clement Prouteau, Bethany Robinette, Dmitrijs Rots, Gita Taurina, Marjon van Slegtenhorst, Ludmila Volozonoka, Marja Wessels, Brayden West, Ayelet Zerem, Yinhong Zhang, Baosheng Zhu, Alban Ziegler, Cécile Courdier, Patricia Fergelot, Julien Van Gils, Shannon Terek, Grace E VanNoy, Brianna Berlin, Alexandra G Buonomo, Jillian L McKee, Gregory M Cooper, Hui Guo

American journal of human genetics · 2026

Abstract e pubblicazione originale

L’abstract è consultabile nella fonte originale. Non viene ripubblicato qui perché non risulta verificata una licenza compatibile.

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Parole chiave

HumansAnimalsFemaleNeurodevelopmental DisordersMaleLoss of Function MutationMiceChildTranscription FactorsAllelesDNA-Binding ProteinsChild, PreschoolAdolescentPhenotypeMutation, MissenseAutism Spectrum DisorderGeneMatcherZNF536autism spectrum disorderhaploinsufficiencyneurodevelopmentrare diseasetranscription factor

Come citare questo studio

Susan M Hiatt, Wenjing Zhao, Zhongqing Wang, Yingjie Wan, Kewen Chen, Ke Wang, Senwei Tan, Magalie Barth, Gaber Bergant, Thomas Besnard, Emily Boothe, Theresa Brunet, Caleb Bupp, Benjamin Cogne, Julie S Cohen, Christine Coubes, Bert B A de Vries, Madison Donald, Colin A Ellis, Stephanie Riley Eriksson, Benjamin Ganne, David Genevieve, Benedicte Gerard, Aixa Gonzalez Garcia, Laura G Hendon, Noa Henig, Kristina Huss, Bertrand Isidor, Taylor Laut, Benjamin R Leadem, Elysa J Marco, Daphna Marom, Saadet Mercimek-Andrews, Alison M Muir, Benjamin Navet, Slavica Ostojić, Borut Peterlin, Rolph Pfundt, Anna Prentice, Clement Prouteau, Bethany Robinette, Dmitrijs Rots, Gita Taurina, Marjon van Slegtenhorst, Ludmila Volozonoka, Marja Wessels, Brayden West, Ayelet Zerem, Yinhong Zhang, Baosheng Zhu, Alban Ziegler, Cécile Courdier, Patricia Fergelot, Julien Van Gils, Shannon Terek, Grace E VanNoy, Brianna Berlin, Alexandra G Buonomo, Jillian L McKee, Gregory M Cooper, Hui Guo. (2026). Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.. American journal of human genetics. DOI: 10.1016/j.ajhg.2026.08.013

Consulta la pubblicazione originale ↗