Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 263
  • Home
  • Print this page
  • Email this page
CASE REPORT
Year : 2018  |  Volume : 4  |  Issue : 3  |  Page : 299-302

ZNF469 mutation in a case of Ehlers–Danlos syndrome presenting with glomerulonephritis


1 Department of Medicine, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
2 CSIR Institute of Genomics and Integrative Biology, New Delhi, India

Correspondence Address:
Dr. Smita Nath
Department of Medicine, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJAM.IJAM_11_18

Rights and Permissions

Ehlers Danlos syndrome is the term applied to a group of rare genetic disorders charactersised by joint hypermobility, skin fragility and hyperextensibility. However the syndrome includes patients with rare distinctive features like severe muscle hypotonia, marfanoid habitus, kyphoscoliosis, osteopenia, keratoconus and eye globe rupture. We present a case of Ehlers-Danlos Syndrome Type VI, with ZNF 469 mutation affecting two siblings born out of consanguineous marriage. The following core competencies are addressed in this article: Medical knowledge, Patient care, Systems-based practice.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed232    
    Printed13    
    Emailed0    
    PDF Downloaded5    
    Comments [Add]    

Recommend this journal