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...

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Bibliographic Details
Main Authors: Adiratna Mat Ripen, Hamidah Ghani, Chai Teng Chear, Mei Yee Chiow, Sharifah Nurul Husna Syed Yahya, Asiah Kassim, Saharuddin Bin Mohamad
Format: Article
Language:English
Published: SAGE Publishing 2020-05-01
Series:SAGE Open Medicine
Online Access:https://doi.org/10.1177/2050312120922652