Associated Papers
Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.
Luo L et al.
Diagnostics (basel, Switzerland), 2026
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Shi X et al.
Annals of Medicine, 2025
A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature.
Jiang C et al.
Clinical Case Reports, 2024
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
An early-onset SLE patient with a novel paternal inherited BACH2 mutation.
Zhou L et al.
Journal of Clinical Immunology, 2023
DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report.
Huang M et al.
Bmc Pediatrics, 2022
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Castro ACE et al.
Frontiers in Immunology, 2022
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.
Su W et al.
World Journal of Gastroenterology, 2021
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Luo X et al.
Frontiers in Immunology, 2021
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Miyazawa H et al.
Frontiers in Immunology, 2021
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Sun B et al.
Orphanet Journal of Rare Diseases, 2020
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 2020
32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1
Molecular and immunological characterization of DNA ligase IV deficiency.
Jiang J et al.
Clinical Immunology (orlando, Fla.), 2016
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