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Article

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

BMC medical genetics - 26 Apr 2014

Santoro Claudia, Pacileo Giuseppe, Limongelli Giuseppe, Scianguetta Saverio, Giugliano Teresa, Piluso Giulio, Ragione Fulvio Della, Cirillo Mario, Mirone Giuseppe, Perrotta Silverio

Abstract excerpt

BACKGROUND: Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis...

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Source

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Identifiers

PMID: 24767283
DOI: 10.1186/1471-2350-15-44
PMCID: PMC4005403

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24767283-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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