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Article

[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Aug 2018

Liang Y, Ye J, Wei H, Ye F, Luo X P

Abstract excerpt

Objective: To investigate the clinical and genetic characteristics of a Chinese boy with Verheij syndrome and review the literature. Methods: The clinical and genetic data of a Chinese boy with Verheij syndrome, who was admitted to the Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in May 2017 were analyzed. Original papers on Verheij syndrome...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30078240
DOI: 10.3760/cma.j.issn.0578-1310.2018.08.007

Genes

PUF60
IGF1
IGFBP3
BRAF
KRAS
NRAS
PTPN11
RAF1
RASA2
RIT1
SDS
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].PMID 30078240Read ↗

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