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Renal Failure Volume 36, 2014 - Issue 6
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Case Reports

Orofacial digital syndrome type 1: an underlying cause of chronic renal failure

Yasemin Coskun YavuzNephrology Department, Sutcu Imam University KahramanmarasTurkeyCorrespondence[email protected]
,
Safa Ersen GanidagliDepartment of Internal Medicine, Sutcu Imam University KahramanmarasTurkey
,
Tugba YilmazDepartment of Internal Medicine, Sutcu Imam University KahramanmarasTurkey
,
Orcun AltunorenNephrology Department, Sutcu Imam University KahramanmarasTurkey
,
Mustafa Saygin DenizDepartment of Internal Medicine, Sutcu Imam University KahramanmarasTurkey
&
Ekrem DoganNephrology Department, Sutcu Imam University KahramanmarasTurkey
Pages 946-947 | Received 01 Nov 2013, Accepted 19 Feb 2014, Published online: 09 Apr 2014

References

  • Dodge JA, Kernohan DC. Oral-facial-digital syndrome. Arch Dis Child. 1967;42:214–219
  • Saal S, Faivre L, Aral B. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet. 2009;77:258–265
  • GeneReviews™. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1188. Initial Posting: July 24, 2002. Last Accessed February 28, 2013
  • Scolari F, Valzorio B, Carli O, et al. Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. Nephrol Dial Transplant. 1997;12:1247–1250
  • Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008;29:1237–1246
  • Mihci E, Tacoy S, Ozbilim G, Franco B. Oral-facial digital syndrome type 1. Indian Pediatr. 2007;44:854–856

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