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Journal Articles

A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations

Natalia Borbaran Bravo, Ekaterina Deordieva, Larissa Doll, Mohammad ElGamacy, Benjamin Dannenmann, Joana Azevedo, Alberto Iannuzzo, Selket Delafontaine, Moritz Lehners, Marius Sebastian Theo Kolodziej, Birte Hernandez Alvarez, Anna-Sophia Hellmuth, Malte Ritter, Betül Findik, Viktoria Zakharova, Sandro Bräuning, Sergey Kandabarau, Claudia Lengerke, Robert Feil, Isabelle Meyts, Jérôme Delon, Markus F. Templin, Marc Sturm, Olaf Rieß, Cornelia Zeidler, Karl Welte, Anna Shcherbina, Maksim Klimiankou, Julia Skokowa
Journal: Blood
Blood blood.2023022576.
https://doi.org/10.1182/blood.2023022576
Published: 2024
Includes: Supplemental data
Journal Articles

Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia

Natalia Alejandra Borbaran Bravo, Ekaterina Deordieva, Larissa Doll, Mohammad Elgamacy, Benjamin Dannenmann, Joana Azevedo, Alberto Iannuzzo, Selket Delafontaine, Moritz Lehners, Marius Kolodziej, Birte Hernandez Alvarez, Anna-Sophia Hellmuth, Malte Ulrich Ritter, Betül Findik, Viktoria Zakharova, Sandro Bräuning, Sergey Kandabarau, Claudia Lengerke, Robert Feil, Isabelle Meyts, Jerome Delon, Markus Templin, Marc Sturm, Olaf Rieß, Cornelia Zeidler, Karl Welte, Anna Shcherbina, Maksim Klimiankou, Julia Skokowa
Journal: Blood
Blood (2024) 144 (Supplement 1): 417.
https://doi.org/10.1182/blood-2024-199069
Published: 2024