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Rothmund-Thomson syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ANAPC1
RECQL4
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
DNA replication/checkpoint protein
telomeric D-loop binding
D-loop DNA binding
MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_14
DNA helicase, ATP-dependent, RecQ type
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Genodermatosis
OMIM - Congenital disorder
Fibroblast gene expression from Werner, Bloom, and Rothmund-Thomson syndrome Coriell strains
OMIM - Multisystem Complex Disorders
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Literature
Most Relevant Literature
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndr…
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure re…
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis conge…
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Clinical Trials
Most Relevant Clinical Trials
Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Investigation of Desmoplastic Squamous Cell Carcinoma
Pathology of Helicases and Premature Aging: Study by Derivation of hiPS
Familial Investigations of Childhood Cancer Predisposition
A Study of Observation and Follow-up in People With Basal Cell Carcinoma
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