Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Hereditary erythrocytes disorders include a large group of conditions with heterogeneous molecular bases and phenotypes. We analyzed here a case series of 155 consecutive patients with clinical suspicion of hereditary erythrocyte defects referred to the Medical Genetics Unit from 2018 to 2020. All o...

Full description

Bibliographic Details
Main Authors: Immacolata Andolfo, Stefania Martone, Barbara Eleni Rosato, Roberta Marra, Antonella Gambale, Gian Luca Forni, Valeria Pinto, Magnus Göransson, Vasiliki Papadopoulou, Mathilde Gavillet, Mohsen Elalfy, Antonella Panarelli, Giovanna Tomaiuolo, Achille Iolascon, Roberta Russo
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
red blood cell defects
targeted next-generation sequencing
multi-locus inheritance
<i>PIEZO1</i>
<i>SPTA1</i>
Online Access:https://www.mdpi.com/2073-4425/12/7/958

Internet

https://www.mdpi.com/2073-4425/12/7/958

Similar Items