Aase Syndrome Latest Advances

Molecular dynamics insights into novel and nano-rare de novo mutations in the ribosomal proteins S19 and L26 causing Diamond-Blackfan anemia in Iranian patients.

Journal: Journal of biomolecular structure & dynamics

Published: December 31, 2025

Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.

Journal: Expert review of hematology

Published: December 25, 2025

Dental Manifestations and Clinical Implications of Diamond-Blackfan Anemia.

Journal: Journal of dentistry for children (Chicago, Ill.)

Published: December 10, 2025

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome.

Journal: Haematologica

Published: October 29, 2025

Persistent Severe Lymphopenia Identified by Newborn Screening Program for Inborn Errors of Immunity in a Child With Diamond-Blackfan Anemia Syndrome.

Journal: Pediatric blood & cancer

Published: October 28, 2025

Congenital Anemia Due to Erythropoietin Gene Mutation Presenting With Diamond-Blackfan Anemia-like features.

Journal: Journal of investigative medicine high impact case reports

Published: October 25, 2025

Neonatal Diamond-Blackfan anemia: a case report

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: October 22, 2025

Hematologic Landscape of Adult Patients With Diamond-Blackfan Anemia Syndrome.

Journal: American journal of hematology

Published: October 14, 2025

RPS19 and RPL5 Haploinsufficient Models Reveal Divergent Ribosomal Subunit Controls of Fetal Hematopoiesis.

Journal: Research square

Published: October 03, 2025

A Rare Variant in RPS26 Gene Causing Variable Phenotype of Diamond-Blackfan Anemia Type 10 (DBA10) in an Indian Family.

Journal: Indian journal of pediatrics

Published: September 24, 2025

Irradiation-Free Reduced Intensity Conditioning Stem Cell Transplantation for Young Patients With Diamond-Blackfan Anemia Syndrome Is Well-Tolerated and Effective.

Journal: Pediatric blood & cancer

Published: September 16, 2025

Generation of iPSC and isogenic gene-corrected lines from a patient with RPS7 (c.277_279delGTC)-mutated Diamond-Blackfan anemia syndrome.

Journal: Stem cell research

Published: August 28, 2025