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KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Wang, Huijun, Qian, Yanyan, Wu, Bingbing, Zhang, Ping, Zhou, Wenhao
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4628240/
https://ncbi.nlm.nih.gov/pubmed/26521233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0247-1
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