Literature DB >> 10794262

High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.

A M Avunduk1, Y Aslan, Z Kapicioğlu, R Elmas.   

Abstract

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Year:  2000        PMID： 10794262     DOI： 10.1034/j.1600-0420.2000.078002221.x

Source DB:  PubMed          Journal:  Acta Ophthalmol Scand        ISSN： 1395-3907


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  5 in total

Review 1.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

Review 2.  Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Authors:  Aman George; Tiziana Cogliati; Brian P Brooks
Journal:  Exp Eye Res       Date:  2020-02-04       Impact factor: 3.467

3.  Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

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Review 4.  A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Authors:  Barbara R Pober; Mauro Longoni; Kristin M Noonan
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-01

5.  Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report.

Authors:  Mohammed Yousef Alyousef; Alanoud A Abuhaimed; Dania M Alkelabi; Maram AlKahtani; Einas M Yousef; Medhat F Yousef
Journal:  Cureus       Date:  2022-01-09
  5 in total

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