Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

European journal of pediatrics - 1 Feb 2008

Sznajer Yves, Siitonen H Annika, Roversi Gaia, Dangoisse Chantal, Scaillon Michèle, Ziereisen France, Tenoutasse Sylvie, Kestilä Marjo, Larizza Lidia

Abstract excerpt

We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions characterized by a very mild poikilodermic-like appearance on the cheeks only, widespread...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alopecia
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Heterozygote

Share to Phenotype

Share to RecQ Helicases

Share to Rothmund-Thomson Syndrome

Source

Identifiers

PMID: 17372760
DOI: 10.1007/s00431-007-0447-6

Genes

RECQL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.PMID 17372760Read ↗

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.Semantic proximity Read ↗

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.Semantic proximity Read ↗

The mutation spectrum in RECQL4 diseases.Semantic proximity Read ↗

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.Semantic proximity Read ↗

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.Semantic proximity Read ↗

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.Semantic proximity Read ↗

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.Semantic proximity Read ↗

[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].Semantic proximity Read ↗

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.Semantic proximity Read ↗

Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.Semantic proximity Read ↗

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.Semantic proximity Read ↗

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.