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Article

Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.

American journal of medical genetics. Part A - 1 Jul 2016

Somers Allyson E, Hinton Robert B, Pilipenko Valentina, Miller Erin, Ware Stephanie M

Abstract excerpt

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are genetic disorders that affect connective tissue as a result of dysregulated TGF-β signaling. MFS is most frequently caused by mutations in FBN1 whereas Loeys-Dietz syndrome results from mutations in TGFBR1 or TGFBR2. There is substantial inter- and intra-familial phenotypic variability among these disorders, suggesting the presence of genetic modifiers....

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Source

Identifiers

PMID: 27112580
DOI: 10.1002/ajmg.a.37668

Genes

TGFBR1
FBN1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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