Abstract
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.
Keywords: Sjögren-Larsson sendromu, iktiyozis, spastik dipleji, zeka geriliği.
How to Cite
1.
Kılıç MKE. Sjögren-Larsson sendromu: Yeni bir mutasyon ve Türk vakaların gözden geçirilmesi. Çocuk Sağlığı ve Hastalıkları Dergisi 2014; 57: 191-4. Available from: https://cshd.org.tr/article/view/150
