Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004135 (
ATM
)
13,001
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Ataxia telangiectasia
(AT) is a rare autosomal recessive neurodegenerative disorder caused by a mutation in the
ATM
gene. An impaired immune response due to the gene mutation leads to an increased risk of infection and malignancy. We present a rare case of
dermatofibrosarcoma protuberans
arising in a patient with AT.
...
PMID:Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome. 3085 90
