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Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran

  • Published:2018-03 Issue:3 Volume:61 Page:139-144
  • ISSN:1769-7212
  • Container-title:European Journal of Medical Genetics
  • language:en
  • Short-container-title:European Journal of Medical Genetics

Author:

Kariminejad Ariana,Barzgar Mohammadreza,Bozorgmehr Bita,Keshavarz Elham,Kariminejad Mohamad Hasan,S'Aulis Dana,Rizzo William B.

Funder

Sjögren-Larsson Syndrome Research Fund

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference35 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene;Auada;Br. J. Dermatol,2006

3. Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation;Burgueno-Montanes;Arch. Soc. Esp. Oftalmol.,2014

4. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome;Cho;Clin. Genet.,2017

5. Novel mutation in Sjögren-Larsson syndrome is associated with divergent neurologic phenotypes;Davis;J. Child. Neurol.,2013

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1. The Skin and the Eyes;Atlas of Dermatology, Dermatopathology and Venereology;2021-10-31

2. A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome;Journal of Child Neurology;2021-07-28

3. The Skin and the Eyes;Atlas of Dermatology, Dermatopathology and Venereology;2020

4. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation;Archives of Dermatological Research;2019-08-06

5. Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype;Ophthalmic Genetics;2019-07-04
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