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Article

Leopard syndrome.

Orphanet journal of rare diseases - 27 May 2008

Sarkozy Anna, Digilio Maria Cristina, Dallapiccola Bruno

Abstract excerpt

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmo...

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Topics

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Share to Cardiomyopathy, Hypertrophic
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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

Source

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Identifiers

PMID: 18505544
DOI: 10.1186/1750-1172-3-13
PMCID: PMC2467408

Genes

PTPN11
RAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18505544-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Leopard syndrome: the potential cardiac defect underlying skin phenotypes.Semantic proximity Read ↗

Leopard syndrome: a report of five cases from one family in two generations.Semantic proximity Read ↗

Do you know this syndrome? Leopard syndrome.Semantic proximity Read ↗

LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.Semantic proximity Read ↗

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

Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Noonan syndrome: genetic and clinical update and treatment optionsSemantic proximity Read ↗

[LEOPARD syndrome].Semantic proximity Read ↗

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