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Article

Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?

Pediatrics - 1 Mar 2017

Woolnough Rebecca, Dhawan Andrew, Dow Kimberly, Walia Jagdeep S

Abstract excerpt

Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described...

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Source

Identifiers

PMID: 28209770
DOI: 10.1542/peds.2016-1281

Genes

FBN2
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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