Document Detail

Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
MedLine Citation:
PMID:  23211637     Owner:  NLM     Status:  In-Data-Review    
In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.
Abdulaziz Al-Semari; Salma M Wakil; Mohammad A Al-Muhaizea; Mohammed Dababo; Rana Al-Amr; Fowzan Alkuraya; Brian F Meyer
Related Documents :
812367 - A new symdrome of left vocal cord paresis and esophageal diverticulum due to mediastina...
24578717 - Identification of a novel mutation in the chd7 gene in a patient with charge syndrome.
24262697 - Hereditary disorders presenting with urticaria.
24106627 - Sporadic occurrence of jarcho-levin syndrome in an ivorian newborn.
24943507 - Inflammatory pseudotumor of the infratemporal fossa leading to orbital apex syndrome.
24778887 - Congenital arthrogryposis: an extension of the 15q11.2 bp1-bp2 microdeletion syndrome?
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  22     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2012-12-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  13-7     Citation Subset:  IM    
Departments of aNeurosciences bGenetics cPathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  An Evidence-Based Review of Prognostic Factors for Glaucomatous Visual Field Progression.
Next Document:  Epitope interactions of monoclonal antibodies targeting CD20 and their relationship to functional pr...