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Article

Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.

The American journal of cardiology - 15 Nov 2020

Galazka Patrycja, Jain Renuka, Muthukumar Lakshmi, Sanders Heather, Bush Michelle, Jan M Fuad, Jahangir Arshad, Khandheria Bijoy K, Tajik A Jamil

Abstract excerpt

Multiple lentigines syndrome is an autosomal dominant inherited condition with variable expressivity that is also known as LEOPARD syndrome. LEOPARD stands for lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, abnormalities of genitalia, retardation of growth, and deafness. LEOPARD syndrome most frequently develops secondary to a missense mutation of...

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Identifiers

PMID: 32866449
DOI: 10.1016/j.amjcard.2020.08.027

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