Article
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
European journal of medical genetics - 1 Jun 2019
Pei Yang, Beaman Glenda M, Mansfield David, Clayton-Smith Jill, Stewart Murray, Newman William G
Abstract excerpt
Melkersson Rosenthal syndromes (MRS) is a rare autosomal dominantly inherited neurocutaneous syndrome characterised by a triad of facial (seventh cranial) nerve palsy, recurrent orofacial swelling and fissuring of the tongue. A recent report implicated a heterozygous missense variant in SLC27A1 (FATP1) as the cause of this condition in members of an affected Chinese family. We undertook Sanger sequencing of this...
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