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Article

A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.

BMC endocrine disorders - 6 Jan 2021

Zhao Xiu, Li Zhuoguang, Wang Li, Lan Zhangzhang, Lin Feifei, Zhang Wenyong, Su Zhe

Abstract excerpt

BACKGROUND: Noonan syndrome is an inherited disease involving multiple systems. More than 15 related genes have been discovered, among which LZTR1 was discovered recently. However, the pathogenesis and inheritance pattern of LZTR1 in Noonan syndrome have not yet been elucidated. CASE PRESENTATION: We herein describe a family with LZTR1-related Noonan syndrome. In our study, the proband, sister, mother, maternal...

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Identifiers

PMID: 33407364
DOI: 10.1186/s12902-020-00666-6
PMCID: PMC7788825

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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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