Article
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.
BMC medical genetics - 31 Oct 2015
Wang Huijun, Qian Yanyan, Wu Bingbing, Zhang Ping, Zhou Wenhao
Abstract excerpt
BACKGROUND: Linear nevus sebaceous syndrome (LNSS) is a multisystem disorder that includes nevus sebaceous and central nervous system, ocular and skeletal anomalies. We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS. CASE PRESENTATION: A 3-month-old female with a clinical diagnosis of LNSS presented with intermittent epilepsy. Her mother carefully collected a skin lesion...
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