Literature DB >> 11822712

Mild Noonan phenotype associated with coloboma of the iris and choroid.

Claus Højbjerg Gravholt, Mette Warburg, Ursula Friedrich.   

Abstract

A 20-year-old Caucasian male with mild Noonan phenotype associated with coloboma of the iris and choroid is described. It is concluded that iris and retinal colobomas could be a rare feature of Noonan sydrome.

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Year:  2002        PMID: 11822712     DOI: 10.1097/00019605-200201000-00017

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome.

Authors:  Mae-Lynn Catherine Bastion; Amelah Mohd Adbul Qader
Journal:  BMJ Case Rep       Date:  2011-05-16
  1 in total

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