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Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant
Author(s) -
Sirisomboonwong Korawan E.,
Martindale Joanne,
Keefe Martin,
Goudie David,
Poke Gemma
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40652
Subject(s) - missense mutation , medicine , gene , biology , genetics , mutation
Multiple self‐healing squamous epithelioma (MSSE, Ferguson‐Smith disease) and Loeys‐Dietz syndrome (LDS) are allelic conditions associated with pathogenic variants in the transforming growth factor beta receptor 1 gene ( TGFBR1 ). We describe a patient with a novel missense variant in this gene: c.664G > A, p.[Gly222Arg], who clinically presents with both syndromes. The patient also has a history of gastric antral vascular ectasia, which has not been reported previously in LDS.