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)
We observed a male newborn with bilateral
nystagmus
and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and
IGSF1
. These two loss-of function mutations are known to cause, respectively, congenital
nystagmus
and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life.
...
PMID:Congenital nystagmus and central hypothyroidism. 2578 Mar 67
