Whole exome sequencing identifies compound heterozygous variants of gene in monozygotic twin patients with common variable immunodeficiency
Objectives: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2020-05-01
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Series: | SAGE Open Medicine |
Online Access: | https://doi.org/10.1177/2050312120922652 |