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Article

PTPN11 mutations in LEOPARD syndrome.

Journal of medical genetics - 1 Aug 2002

Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns J-P

Abstract excerpt

LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome. Recently, missense mutations in the PTPN11 gene located in 12q24 were found to cause Noonan syndrome. All...

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Source

Open in PubMed Open full text

Identifiers

PMID: 12161596
DOI: 10.1136/jmg.39.8.571
PMCID: PMC1735195

Genes

PTPN11

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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PTPN11 mutations in LEOPARD syndrome.PMID 12161596Read ↗

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