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Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

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第一作者: Séverine,Marti
第一单位: Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.;INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France.
作者单位: Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.;INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France. [1] Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France. [2] French Registry of Chronic Neutropenia Trousseau Hospital Paris France. [3] INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France. [4] Department of Pediatric Oncology and Hematology Centre Hospitalo-Universitaire (CHU) de Saint Denis La Réunion France. [5] Department of Pediatric Oncology and Hematology CHU Bordeaux Bordeaux France. [6] Department of Pediatric Hematology and Immunology Robert Debré Hospital, AP-HP Paris France. [7] Department of Pediatric Hematology CHU Lille Lille France. [8] Department of Internal Medicine Louis Pasteur Hospital Colmar France. [9] Laboratoire SeqOIA (FMG2025) Paris France. [10] Department of Pediatric Hematology and Oncology CHU de Caen Caen France. [11] Sorbonne University, INSERM UMRS 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, AP-HP Paris France. [12] Department of Pediatric Hematology and Oncology CHU Poitiers Poitiers France. [13] Department of Pediatric Hematology and Oncology CHU Hôpital Sud Rennes France. [14] Department of Medical Genetics CHU Rennes Rennes France. [15] Department of Medical Genetics CHU Rouen Rouen France. [16] Department of Biological Hematology, Saint-Antoine Hospital, INSERM, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS Sorbonne University Paris France. [17] Department of Pediatric Hematology and Oncology Rouen University Hospital Rouen France. [18] Pediatric Department Delafontaine Hospital Saint-Denis France. [19] Department of Pediatric Hematology and Oncology CHU Toulouse Toulouse France. [20] Centre d'étude des Déficits Immunitaires, Necker Hospital, AP-HP Paris France. [21] Department of Internal Medicine and Hematology CHU Lille Lille France. [22] French Registry of Chronic Neutropenia Trousseau Hospital Paris France.;Department of Pediatric Hematology and Oncology Trousseau Hospital Paris France. [23]
DOI 10.1002/hem3.70150
PMID 40510848
发布时间 2025-06-14
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