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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Abidi, Kamel T., Kamal, Naglaa M., Bakkar A., Ayman A., Alotaibi, Maram, Asseri, Haifa, Bokari, Kawthar A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2020
Ämnen:
Clinical Reports
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk