Deleterious ZNRF3 Germline Variants Cause Neurodevelopmental Disorders with Mirror Brain Phenotypes Via Domain-Specific Effects on Wnt/β-catenin Signaling

Paranchai Boonsawat,Reza Asadollahi,Dunja Niedrist,Katharina Steindl,Anaïs Begemann,Pascal Joset,Elizabeth J. Bhoj, Dong Li,Elaine Zackai,Annalisa Vetro,Carmen Barba,Renzo Guerrini,Sandra Whalen,Boris Keren,Amjad Khan,Duan Jing,María Palomares Bralo, Emi Rikeros Orozco, Qin Hao,Britta Schlott Kristiansen

American journal of human genetics（2024）

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ZNRF3,microcephaly,macrocephaly,mirror phenotype,Wnt signaling,tumor suppressor gene,haploinsufficiency,dominant negative,adrenal insufficiency,congenital heart defects

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