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doi: 10.1007/s12035-012-8278-5

Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

In: In: 90th European Atherosclerosis Society Congress

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Perioral and intraoral characteristics: The blue nevus is well-circumscribed and slightly raised