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Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation
BACKGROUNDD: Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability. METHODS: We report a seven‐years‐old female born to consanguineous parents who presented with erythemat...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7667322/ https://ncbi.nlm.nih.gov/pubmed/32930514 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1487 |
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