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Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

  • Published:2014-09-22 Issue:11 Volume:164 Page:2947-2951
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Aslan Deniz1,Akata Rustu Fikret2,Schröder Julia3,Happle Rudolf4,Moog Ute5,Bartsch Oliver3

Affiliation:

1. Section of Hematology, Department of Pediatrics, Faculty of Medicine; Gazi University; Ankara Turkey

2. Department of Ophthalmology; Faculty of Medicine; Gazi University; Ankara Turkey

3. Institute of Human Genetics; University Medical Centre of the Johannes Gutenberg University Mainz; Mainz Germany

4. Department of Dermatology; Freiburg University Medical Center; Freiburg Germany

5. Institute of Human Genetics; University of Heidelberg; Heidelberg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis;Ardinger;Am J Med Genet Part A,2007

2. Developmental anomalies of the skin;Bellet;Semin Perinatol,2013

3. MR imaging of the spine in epidermal nevus syndrome;Booth;Am J Neuroradiol,2002

4. Oculo-ectodermal syndrome: A new tumour predisposition syndrome;Federici;Clin Dysmorphol,2004

5. Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12;Fickie;Am J Med Genet Part A,2011

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