Case Reports

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France;
Department of Pediatric Hematology and Oncology, CHU Grenoble Alpes, Grenoble, France;
Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Paris, France;
Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Paris, France;
INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France;
Laboratory of Hematology, Robert Debré Hospital - Université de Paris, France;
Department of Medical Genetics, Univ. Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, Grenoble;
French Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France;
Department of Pediatric Hematology and Oncology, Trousseau Hospital, AP-HP, Paris, France;
INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France;
Dept of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France
Haematologica Early view Apr 9, 2020 https://doi.org/10.3324/haematol.2020.247825