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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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJAM.IJAM_11_18

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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.

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