Literature DB >> 16250223

Unilateral Peters' anomaly in a patient with DiGeorge syndrome.

I Casteels1, K Devriendt.   

Abstract

We report a case of unilateral Peters' anomaly in a 3-month-old infant with a microdeletion in chromosome 22q11.2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental defects of this disorder.

Entities:  

Mesh：

Year:  2005        PMID： 16250223     DOI： 10.3928/0191-3913-20050901-17

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


  6 in total

1.  A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

Authors:  Linda M Reis; Rebecca C Tyler; Roberto Zori; Jennifer Burgess; Jennifer Mueller; Elena V Semina
Journal:  Ophthalmic Genet       Date:  2013-09-11       Impact factor: 1.803

2.  Ocular findings in children with a microdeletion in chromosome 22q11.2.

Authors:  Ingele Casteels; Patricia Casaer; Marc Gewillig; Ann Swillen; Koenraad Devriendt
Journal:  Eur J Pediatr       Date:  2007-08-18       Impact factor: 3.183

3.  Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Authors:  Michele P Migliavacca; Nara L M Sobreira; Graziela P M Antonialli; Mariana M Oliveira; Maria Isabel S A Melaragno; Ingele Casteels; Thomy de Ravel; Decio Brunoni; David Valle; Ana Beatriz A Perez
Journal:  Am J Med Genet A       Date:  2014-01-29       Impact factor: 2.802

4.  Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.

Authors:  Gil Binenbaum; Donna M McDonald-McGinn; Elaine H Zackai; B Michael Walker; Karlene Coleman; Amy M Mach; Margaret Adam; Melanie Manning; Deborah M Alcorn; Carrie Zabel; Dennis R Anderson; Brian J Forbes
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

Review 5.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

Review 6.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.