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:C0004134 (
ataxia
)
15,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A family of 6 siblings, 4 of which have
Hallgren's syndrome
, i.e., retinitis pigmentosa, congenital deafness and
ataxia
is described. Hallgren's series in Sweden is referred to. This affection was ascribed by Hallgren to a single gene with almost complete penetrance. However, 3 brothers of the present series show neurological anomalies not present in the Swedish cases.
...
PMID:[Hallgren's syndrome in one family: retinitis pigmentosa, congenital deafness and ataxia]. 58 86
