Çocuk Sağlığı ve Hastalıkları Dergisi
2014 , Vol 57 , Num 3
*İletişim: kilickorkmaz@yahoo.com.tr Sjögren-Larsson syndrome (SLS) (MIM 270200) is a rare, autosomal recessive¸ neurocutaneous disorder characterized by the presence of congenital ichthyosis, spastic di- or quadriplegia, and mental retardation. We report a patient with SLS with a novel splice site c.941-2A>G mutation. Anahtar Kelimeler : Sjögren-Larsson sendromu, iktiyozis, spastik dipleji, zeka geriliği.