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:C0038379 (
strabismus
)
9,317
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Previous reports have described the diversity of the phenotypic expression of the
Laurence-Moon
and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism,
strabismus
, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.
...
PMID:Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. 209 58
