Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Titel:
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Auteur:
Wagner, Matias Skorobogatko, Yuliya Pode-Shakked, Ben Powell, Cynthia M. Alhaddad, Bader Seibt, Annette Barel, Ortal Heimer, Gali Hoffmann, Chen Demmer, Laurie A. Perilla-Young, Yezmin Remke, Marc Wieczorek, Dagmar Navaratnarajah, Tharsini Lichtner, Peter Klee, Dirk Shamseldin, Hanan E. Al Mutairi, Fuad Mayatepek, Ertan Strom, Tim Meitinger, Thomas Alkuraya, Fowzan S. Anikster, Yair Saltiel, Alan R. Distelmaier, Felix