Litcius/Paper detail

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Cosima M. Schmid, Anne Gregor, Gregory Costain, Chantal F. Morel, Lauren Massingham, Jennifer Schwab, Chloé Quēlin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol Saunders, Ana S.A. Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O’Donnell‐Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela N. Schweitzer, Darius Ebrahimi‐Fakhari, Kristin G. Monaghan, Timothy Blake Palculict, Melanie P. Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Wendy K. Chung, Christiane Zweier

2023Genetics in Medicine19 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyMissense mutationGeneticsBiologyMicrocephalyHomeoboxPhenotypeGeneNeurodevelopmental disorderTranscription factorCardiomyopathy and Myosin StudiesCongenital heart defects researchGenomics and Rare Diseases