Rothmund-Thomson Syndrome Latest Advances

Find the Latest Research About Rothmund-Thomson Syndrome

Last Updated: 11/08/2026

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Found 646 publications

Rothmund-Thomson Syndrome Type 2 Misdiagnosed as Dyskeratosis Congenita.

Rothmund-Thomson Syndrome Type 2 Misdiagnosed as Dyskeratosis Congenita.

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology
Published: June 26, 2026

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Journal: Klinische Padiatrie
Published: February 02, 2026

Case Report: A case of Rothmund-Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement.

Case Report: A case of Rothmund-Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement.

Journal: Frontiers in medicine
Published: January 23, 2026

Biallelic MCM10 Deficiency Presenting with Natural Killer Cell Deficiency, Poikiloderma and EBV-Associated Malignancy.

Biallelic MCM10 Deficiency Presenting with Natural Killer Cell Deficiency, Poikiloderma and EBV-Associated Malignancy.

Journal: Journal of clinical immunology
Published: January 06, 2026

Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.

Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.

Journal: Cureus
Published: October 31, 2025

Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review.

Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review.

Journal: Molecular genetics & genomic medicine
Published: October 01, 2025

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.

Journal: Frontiers in pediatrics
Published: September 29, 2025

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Journal: bioRxiv : the preprint server for biology
Published: August 08, 2025

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Journal: Orphanet journal of rare diseases
Published: May 20, 2025

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Journal: American journal of medical genetics. Part A
Published: May 05, 2025

An overview of RecQ helicases and related diseases.

An overview of RecQ helicases and related diseases.

Journal: Aging
Published: April 07, 2025

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

Journal: American journal of medical genetics. Part A
Published: March 24, 2025
Showing 1-12 of 646

Last Updated: 11/08/2026