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

Abstract Congenital neutropenia (CN) comprises a heterogeneous group of rare genetic disorders. While some CN cases present only with neutropenia, others present with additional extra‐hematological manifestations. The most common cause of CN is variants in ELANE; however, approximately 30 other gene...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Séverine Marti, Philippe Pellet, Blandine Beaupain, Léa Durix, Julien Buratti, Yves Réguerre, Nathalie Aladjidi, Saba Azarnoush, Severine Clauin, Wahid Abou Chahla, Gilles Blaison, Jeremy Bertand, Damien Bodet, Benoit Brethon, Jessica Chane‐Teng, Manon Delafoy, Chrystelle Dupraz, Virginie Gandemer, Philippe Denizeau, Alice Goldenberg, Pierre Hirsch, Anaïs l'Haridon, Aude Marie‐Cardine, Gabriella Vera, Brigitte Nelken, Laure Nizery, Marie Nolla, Marlène Pasquet, Jérémie Rosain, Louis Terriou, Isabelle Plo, Jean Donadieu, Christine Bellanné‐Chantelot
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wiley 2025-06-01
סדרה:	HemaSphere
גישה מקוונת:	https://doi.org/10.1002/hem3.70150
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!