Ghosal Hematodiaphyseal Dysplasia Latest Advances

Find the Latest Research About Ghosal Hematodiaphyseal Dysplasia

Last Updated: 06/24/2026

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Found 25 publications

Ghosal Hematodiaphyseal Dysplasia Presenting as Transfusion-Dependent Anemia in Early Childhood: A Case of Homozygous TBXAS1 (c.1235G > A; p.Arg412Gln) Variant.

Ghosal Hematodiaphyseal Dysplasia Presenting as Transfusion-Dependent Anemia in Early Childhood: A Case of Homozygous TBXAS1 (c.1235G > A; p.Arg412Gln) Variant.

Journal: Indian pediatrics

Published: January 07, 2026

TBXAS1 deficiency: a novel monogenic cause of chronic nonbacterial osteomyelitis responsive to COX inhibitors.

TBXAS1 deficiency: a novel monogenic cause of chronic nonbacterial osteomyelitis responsive to COX inhibitors.

Journal: Expert review of clinical immunology

Published: October 28, 2025

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Journal: Calcified tissue international

Published: February 05, 2025

Steroid-responsive anemia with bony dysplasias: What lurks behind!

Steroid-responsive anemia with bony dysplasias: What lurks behind!

Journal: Journal of tropical pediatrics

Published: September 14, 2024

Case report: Ghosal hematodiaphyseal dysplasia-A rare cause of skeletal dysplasia and cytopenia.

Case report: Ghosal hematodiaphyseal dysplasia-A rare cause of skeletal dysplasia and cytopenia.

Journal: International journal of rheumatic diseases

Published: December 29, 2023

Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.

Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.

Journal: Radiology case reports

Published: December 24, 2023

Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Journal: Haematologica

Published: October 27, 2023

Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.

Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.

Journal: Gene

Published: September 16, 2023

Blocking COX unlocks response in GHDD.

Blocking COX unlocks response in GHDD.

Journal: Blood

Published: March 30, 2023

Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Journal: Blood

Published: October 12, 2022

A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia.

A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia.

Journal: Indian journal of pediatrics

Published: August 23, 2020

Ghosal Hematodiaphyseal Dysplasia: A Case Report.

Ghosal Hematodiaphyseal Dysplasia: A Case Report.

Journal: International journal of hematology-oncology and stem cell research

Published: May 29, 2020

Showing 1-12 of 25

Last Updated: 06/24/2026