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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Mythily Ganapathi, Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz, Susan M. White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa Bastarache, Amanda Thomas‐Wilson, Joan M. Stoler, Nuria C. Bramswig, Júlia Baptista, Karen Stals, Florence Démurger, Benjamin Cogné, Bertrand Isidor, Maria Francesca Bedeschi, Angela Peron, Jeanne Amiel, Elaine H. Zackai, John P. Schacht, Alejandro Iglesias, Jenny Morton, Ariane Schmetz, Undiagnosed Diseases Network, Joy D. Cogan, Verónica Seidel, Stephanie Lucia, Stephanie M. Baskin, Isabelle Thiffault, Joy D. Cogan, Christopher T. Gordon, Wendy K. Chung, Sarah Bowdin, Elizabeth Bhoj

2023European Journal of Human Genetics25 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaMicrocephalyFailure to thriveGeneticsBiologyMissense mutationPhenotypeMedicineGeneCongenital Diaphragmatic Hernia StudiesCongenital heart defects researchNeonatal Respiratory Health Research
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays | Litcius