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:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal visual atrophy, early childhood converging strabismus with varying angle relationships,
nystagmus
, light sensitivity and substantial visual deficits. Finally a
Kabuki syndrome
could be confirmed by human genetic investigations (8q22-23 triplication).
...
PMID:[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]. 2001 77
