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Article

Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage.

European journal of medical research - 11 Aug 2022

Lan Junwei, Zeng Tianbao, Liu Sheng, Lan Juhong, Qian Lijun

Abstract excerpt

BACKGROUND: Noonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that originated in the neonatal period. CASE PRESENTATION: This case presents a newborn with a RAF1 gene mutation resulting in NS...

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Identifiers

PMID: 35953836
DOI: 10.1186/s40001-022-00772-2
PMCID: PMC9367063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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