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Article

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Journal of human genetics - 1 Jan 2005

Kalidas Kamini, Shaw Adam C, Crosby Andrew H, Newbury-Ecob Ruth, Greenhalgh Lynn, Temple Isabel K, Law Caroline, Patel Amisha, Patton Michael A, Jeffery Steve

Abstract excerpt

LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular...

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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: 15690106
DOI: 10.1007/s10038-004-0212-x

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15690106-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.PMID 15690106Read ↗

Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.Semantic proximity Read ↗

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.Semantic proximity Read ↗

PTPN11 mutations in LEOPARD syndrome.Semantic proximity Read ↗

LEOPARD Syndrome: Clinical Features and Gene MutationsSemantic proximity Read ↗

PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.Semantic proximity Read ↗

[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].Semantic proximity Read ↗

LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.Semantic proximity Read ↗

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.Semantic proximity Read ↗

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.Semantic proximity Read ↗

Leopard syndrome.Semantic proximity Read ↗

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".Semantic proximity Read ↗

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