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Article

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.

American journal of medical genetics. Part A - 1 Aug 2012

Luo Cheng, Yang Yi-Feng, Yin Bang-Liang, Chen Jin-Lan, Huang Can, Zhang Wei-Zhi, Wang Jian, Zhang Hong, Yang Jin-Fu, Tan Zhi-Ping

Abstract excerpt

Noonan syndrome (NS) is a clinically variable and genetically heterogeneous disorder with congenital heart defects (CHD), short stature, and craniofacial dysmorphisms. Gain-of-function mutations in RAF1 can cause NS and the highly related NS with multiple lentigines (previously known as LEOPARD syndrome). Here we report on a 15-year-old male with NS phenotype: short stature, heart defects, low posterior hairline,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22786616
DOI: 10.1002/ajmg.a.35471

Genes

RAF1

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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