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Article

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.

Annals of clinical and laboratory science - 1 Mar 2017

Nam Hyo-Kyoung, Nam Myung-Hyun, Ha Kee-Soo, Rhie Young-Jun, Lee Kee-Hyoung

Abstract excerpt

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was...

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Source

Identifiers

PMID: 28442527

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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