Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two‐base‐pair delet...

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Detalles Bibliográficos
Autores principales: Taghdiri, Maryam, Kashef, Atie, Fardaei, Majid, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771940/
https://www.ncbi.nlm.nih.gov/pubmed/29375833
http://dx.doi.org/10.1002/ccr3.1235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771940/
https://www.ncbi.nlm.nih.gov/pubmed/29375833
http://dx.doi.org/10.1002/ccr3.1235

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