A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes-Reference-Cited by-同舟云学术

A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes

Published:2024-01 Issue:1 Volume:8 Page:
ISSN:2572-9241
Container-title:HemaSphere
language:en
Short-container-title:HemaSphere

Author:

Kager Leo¹²,Jimenez‐Heredia Raúl²³⁴,Zeitlhofer Petra⁵,Novak Wolfgang¹,Eder Sebastian K.¹²,Segarra‐Roca Anna²³,Frohne Alexandra²³,Nebral Karin⁵,Haimel Matthias²³⁶,Geyeregger René²,Roetzer‐Londgin Katharina²⁵,Haas Oskar A.¹²⁵,Boztug Kaan¹²³⁴⁶

Affiliation:

1. St. Anna Children's Hospital Medical University of Vienna Vienna Austria

2. St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria

3. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria

4. Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria

5. Labdia Labordiagnostik Vienna Austria

6. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/hem3.31

Reference14 articles.

1. Advances in understanding the pathogenesis of red cell membrane disorders

2. Hereditary spherocytosis

3. Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing

4. The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients

5. Genotype–phenotype correlation in children with hereditary spherocytosis

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