These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
    Author: Luk HM, Lo IF, Lai CW, Ma LC, Tong TM, Chan DH, Lam ST.
    Journal: Hong Kong Med J; 2013 Apr; 19(2):182-5. PubMed ID: 23535681.
    Abstract:
    With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical ophthalmological findings, mutational analysis of KIF21A gene should be performed, not only to confirming the diagnosis, but also to offer a prognosis, for genetic counselling, and the possibility of prenatal diagnosis. Here we report the first KIF21A mutation associated with CFEOM1A in Hong Kong.
    [Abstract] [Full Text] [Related] [New Search]