A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations...

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Bibliografske podrobnosti
Main Authors: Incecık, Faruk, Herguner, Ozlem M., Rizzo, Wiliam B., Altunbasak, Sakir
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2013
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3788300/
https://ncbi.nlm.nih.gov/pubmed/24101836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.116927
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