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Article

Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.

Journal of translational medicine - 4 Jun 2015

Sheng Xunlun, Chen Xue, Lei Bo, Chen Rui, Wang Hui, Zhang Fangxia, Rong Weining, Ha Ruoshui, Liu Yani, Zhao Feng, Yang Peizeng, Zhao Chen

Abstract excerpt

BACKGROUND: To determine the genetic lesions and to modify the clinical diagnosis for a Chinese family with significant intrafamilial phenotypic diversities and unusual presentations. METHODS: Three affected patients and the asymptomatic father were included and received comprehensive systemic examinations. Whole exome sequencing (WES) was performed for mutation detection. Structural modeling test was applied to...

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Source

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Identifiers

PMID: 26040324
DOI: 10.1186/s12967-015-0534-9
PMCID: PMC4455986

Genes

FBN1
PHEX

Variants

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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