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

Authors
 Jihyun Kim  ;  Mi Ri Kim  ;  Hee Jung Kim  ;  Kyung-A Lee  ;  Min-Geol Lee 
Citation
 ANNALS OF DERMATOLOGY, Vol.23(2) : 232-235, 2011 
Journal Title
ANNALS OF DERMATOLOGY
ISSN
 1013-9087 
Issue Date
2011
Keywords
LEOPARD syndrome ; Multiple lentigines ; PTPN11 gene
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.
Files in This Item:
T201105463.pdf Download
DOI
10.5021/ad.2011.23.2.232
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Miri(김미리)
Kim, Hee Jung(김희정)
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Min Geol(이민걸) ORCID logo https://orcid.org/0000-0001-7040-5335
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95217
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