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: Branchio-oculo-facial syndrome.
    Author: Kulkarni ML, Deshmukh S, Kumar A, Kulkarni PM.
    Journal: Indian J Pediatr; 2005 Aug; 72(8):701-3. PubMed ID: 16131778.
    Abstract:
    Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
    [Abstract] [Full Text] [Related] [New Search]