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: [The r(14) syndrome. 3 new observations].
    Author: Gilgenkrantz S, Morali A, Vidailhet M, Saura R, Serville F, Fontan D, Moraine C.
    Journal: Ann Genet; 1984; 27(2):73-8. PubMed ID: 6431894.
    Abstract:
    Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.
    [Abstract] [Full Text] [Related] [New Search]