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: Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.
    Author: Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W.
    Journal: Clin Genet; 2006 Jan; 69(1):86-92. PubMed ID: 16451141.
    Abstract:
    We present a Belgian Adams-Oliver syndrome (AOS) family with 10 affected individuals over four generations, of which six were available for this study. Clinical symptoms observed in these patients were very variable as previously reported in other families and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of one foot. To identify the disease-causing gene, we sequenced the MSX1, CART1, P63 (P73L), RUNX2, and HOXD13 genes in this family and nine previously reported families, but no disease-causing mutations were found. Further investigation is ongoing in these families in order to identify the genetic cause of AOS.
    [Abstract] [Full Text] [Related] [New Search]