Associated Papers
Ghosal Hematodiaphyseal Dysplasia Presenting as Transfusion-Dependent Anemia in Early Childhood: A Case of Homozygous TBXAS1 (c.1235G > A; p.Arg412Gln) Variant.
Pathak S et al.
Indian Pediatrics, 2026
Rare Dual Genetic Diagnosis of Wiskott-Aldrich Syndrome and Ghoshal Hematodiaphyseal Dysplasia: Clinical, Diagnostic, and Management Challenges.
Baby EP et al.
Cureus, 2025
Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.
Zamora-Cánovas A et al.
Biomolecules, 2025
41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf
TBXAS1 deficiency causes autoinflammation responsive to IL-6 inhibitor.
Liu L et al.
Annals of the Rheumatic Diseases, 2025
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 2025
Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.
Ravikumar DB et al.
Radiology Case Reports, 2024
Steroid-responsive anemia with bony dysplasias: What lurks behind!
Khandelwal S et al.
Journal of Tropical Pediatrics, 2024
Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.
Sharma P et al.
Gene, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
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