article_metadata: Mohammad Sadegh Shams Nosrati Alireza Doustmohammadi Mariasavina Severino Ferruccio Romano Mahdi Zafari Amir Hesam Nemati Clara Velmans Christian Netzer Jonas Breuer Ilse Julia Broekaert Alexander Joachim Nihad Almasri Michael C Kruer Peter Skidmore Pritha Bisarad Jumana Hoque Somayeh Bakhtiari Annalaura Torella Vincenzo Nigro Francesca Buffelli Ezio Fulcheri Annette Müller Federico Zara Valeria Capra Marcello Scala
article_metadata: 10.1111/cge.14621
article_metadata: Clin Genet
article_metadata: 2025 Jan;107(1):83-90.
article_metadata: kif26a brain malformations congenital megacolon exome sequencing kinesin neurodevelopmental disorder
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39305096/
article_metadata: Intestinal Pseudo-Obstruction / genetics Intestinal Pseudo-Obstruction / pathology Kinesins / genetics
article_metadata: Intestinal Pseudo-Obstruction / genetics Intestinal Pseudo-Obstruction / pathology Kinesins / genetics Case Reports Brain / diagnostic imaging Brain / pathology Child Child, Preschool Exome Sequencing Female Genetic Association Studies Genetic Predisposition to Disease Humans Infant Magnetic Resonance Imaging Male Mutation Mutation, Missense / genetics Phenotype Kinesins
article_metadata: PMC11608842
article_metadata: 39305096
article_metadata: Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects
article_metadata: 2025