Hereditary dehydrated stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panel
Sultan AYDIN KOKER, MD1* , Tuba Hilkay KARAPINAR, MD 1, Paola BIANCHI2, Yeşim OYMAK, MD 1, Elisa FERMO2, Canan VERGİN, MD 1
1Division of Pediatric Hematology and Oncology, Dr. Behçet Uz Children’s Hospital, Izmir, Turkey
2Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, UOC Ematologia,
UOS Fisiopatologia delle Anemie, Milan, Italy
* Correspondence to:
Sultan Aydin Koker, MD, Department of Pediatric Hematology and Oncology, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey, Tel: +905545383483
E-mail:drsultanaydin@hotmail.com
Text word count: 1357;
Abstract word count: 166;
Brief running title: Hereditary dehydrated stomatocytosis
Key words: Hereditary stomatocytosis, PIEZO1 gene, a novel mutation