Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within genomic sequence. Our finding expands the mutation spectrum of that is applicable for further molecular studies and management of SLS.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771940 | PMC |
| http://dx.doi.org/10.1002/ccr3.1235 | DOI Listing |
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