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PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

Authors
 Jihyun Kim  ;  Mi Ri Kim  ;  Min-Geol Lee  ;  Kyung-A Lee  ;  Hee Jung Kim 
Citation
 Annals of Dermatology, Vol.23(2) : 232-235, 2011 
Journal Title
 Annals of Dermatology 
ISSN
 1013-9087 
Issue Date
2011
Abstract
LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or café-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95217
DOI
10.5021/ad.2011.23.2.232
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실)
Yonsei Authors
김미리(Kim, Miri) ; 김희정(Kim, Hee Jung) ; 이경아(Lee, Kyung A) ; 이민걸(Lee, Min Geol)
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