Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome

OBJECTIVE: Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an autosomal dominant disease due to mutations in the raS-MapK pat...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Limongelli, Giuseppe, Pacileo, Giuseppe, Russo, Maria Giovanna, Sarkozy, Anna, Felicetti, Maria, Di Salvo, Giovanni, Morelli, Carmela, Calabrò, Paolo, Paladini, Dario, Marino, Bruno, Dallapiccola, Bruno, Calabrò, Raffaele
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: CIC Edizioni Internazionali 2008
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3279083/
https://ncbi.nlm.nih.gov/pubmed/22439023
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