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

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 diagnosi...

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Bibliographic Details
Main Authors: Kim, Jihyun, Kim, Mi Ri, Kim, Hee Jung, Lee, Kyung-A, Lee, Min-Geol
Format: Artigo
Language:Inglês
Published: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2011
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3130872/
https://ncbi.nlm.nih.gov/pubmed/21747628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5021/ad.2011.23.2.232
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