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)
A 14-month-old male with congenital
nystagmus
, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild
metaphyseal dysostosis
was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause.
...
PMID:Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome. 242 Jan 77
