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)
Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital
nystagmus
. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the
cartilage oligomeric matrix protein
(
COMP
) gene was performed and failed to find mutations.
...
PMID:A new patient with Lowry-Wood syndrome with mild phenotype. 1260 45
