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Article

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2014

Wain Karen E, Ellingson Marissa S, McDonald Jamie, Gammon Amanda, Roberts Maegan, Pichurin Pavel, Winship Ingrid, Riegert-Johnson Douglas L, Weitzel Jeffrey N, Lindor Noralane M

Abstract excerpt

Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To better understand the spectrum and extent of clinical findings in SMAD4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24525918
DOI: 10.1038/gim.2014.5
PMCID: PMC4125531

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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