Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report
Author:
Affiliation:
1. Department of Neonatology, The Fourth Affiliated Hospital of Anhui Medical University, Heifei, Anhui 230012, P.R. China
2. Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Heifei, Anhui 230601, P.R. China
Publisher
Spandidos Publications
Subject
Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine
Reference21 articles.
1. The molecular basis of hereditary red cell membrane disorders;Delaunay;Blood Rev,2007
2. Hereditary spherocytosis;Perrotta;Lancet,2008
3. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis;Wang;Sci China Life Sci,2018
4. Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1;Wang;Eur J Med Genet,2020
5. Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update;Bolton-Maggs;Br J Haematol,2012
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1. Use of Red Cell Indices for Screening of Hereditary Spherocytosis in Neonates: A Report of Two Cases Confirmed by Exome Sequencing;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2023
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