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:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the
KIF21A
and
TUBB3
. It is characterized by congenital non-progressive restrictive ophthalmoplegia and
ptosis
. Mutational analysis of the known genes in such rare diseases by Sanger sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Here, for the first time, association of pathogenic variant c.2860C>T in
KIF21A
gene in an Iranian family with positive history of CFEO-
M1A
was reported.
...
PMID:
KIF21A
Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran. 3055 64
