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Norrie Disease: First Mutation Report and Prenatal Diagnosis in an Indian Family

✍ Scribed by Manju Ghosh, Shipra Sharma, Shivaram Shastri, Sadhna Arora, Rashmi Shukla, Neerja Gupta, Deepika Deka, Madhulika Kabra

Book ID
118822926
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
142 KB
Volume
79
Category
Article
ISSN
0019-5456

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Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene