Rothmund-Thomson Syndrome Latest Advances

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

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

Journal: Cureus

Published: October 31, 2025

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.

Journal: bioRxiv : the preprint server for biology

Published: August 08, 2025

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

Journal: EMBO reports

Published: July 27, 2025

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.

Journal: American journal of medical genetics. Part A

Published: May 05, 2025

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.

Journal: American journal of medical genetics. Part A

Published: March 24, 2025

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Journal: Cancer genetics

Published: March 05, 2024

Atypical presentations of RECQL4-related syndromes.

Journal: Pediatric blood & cancer

Published: December 27, 2023

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.

Journal: Clinical case reports

Published: December 26, 2023

Rothmund-Thomson Syndrome Latest Advances

Find the Latest Research About Rothmund-Thomson Syndrome

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.

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.

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.

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

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

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

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

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

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

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.

An overview of RecQ helicases and related diseases.

An overview of RecQ helicases and related diseases.

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.

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Atypical presentations of RECQL4-related syndromes.

Atypical presentations of RECQL4-related syndromes.

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.