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Article

PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Oct 2009

Lin I-Shou, Wang Jieh-Neng, Chao Sheau-Chiou, Wu Jing-Ming, Lin Shio-Jean

Abstract excerpt

BACKGROUND/PURPOSE: LEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study. METH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 19864201
DOI: 10.1016/S0929-6646(09)60408-3

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19864201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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