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...

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Publié dans:	Journal of prenatal medicine. - 2007. - 2(2008), 2 vom: 30. Apr., Seite 24-6
Auteur principal:	Limongelli, Giuseppe (Auteur)
Autres auteurs:	Pacileo, Giuseppe, Russo, Maria Giovanna, Sarkozy, Anna, Felicetti, Maria, Di Salvo, Giovanni, Morelli, Carmela, Calabrò, Paolo, Paladini, Dario, Marino, Bruno, Dallapiccola, Bruno, Calabrò, Raffaele
Format:	Article
Langue:	English
Publié:	2008
Accès à la collection:	Journal of prenatal medicine
Sujets:	Case Reports Journal Article LEOPARD syndrome hypertrophic cardiomyopathy natural history prenatal diagnosis