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: Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.
    Author: Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH.
    Journal: J Pediatr Orthop B; 2013 May; 22(3):219-21. PubMed ID: 22314436.
    Abstract:
    Tibial hemimelia-polydactyly-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested. The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation. This case further supports a causal relationship between this mutation and the phenotype.
    [Abstract] [Full Text] [Related] [New Search]