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Pasmant, E., Sabbagh, A., Hanna, N., Masliah-Planchon, J., Jolly, E., Goussard, P., Ballerini, P., Cartault, F., Barbarot, S., Landman-Parker, J., Soufir, N., Parfait, B., Vidaud, M., Wolkenstein, P., Vidaud, D. and France, R.N. (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Journal of Medical Genetics, 46, 425-430. doi:10.1136/jmg.2008.065243

has been cited by the following article:

• TITLE: A novel mutation in NF1 gene in a Chinese patient with Legius syndrome like café au lait spots

  AUTHORS: Dongdong Zheng, Xiaohong Duan

  KEYWORDS: Legius Syndrome; Neurofibromatosis Type I

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.2 No.2, May 24, 2013

  ABSTRACT: Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius syndrome (OMIM, 611431) both have multiple café au lait spots. It is a challenge to differentiate the two diseases. Here we report a Legius syndrome-like patient who finally was identified as NF1 with a novel mutation in NF1 exon1 (c.55G > T). The mutation caused a substitution of a glutamic acid (GAG) with a terminator codon (TAG). For those patients with only multiple café au lait macules, axillary and inguinal freckling, but without any other clinical signs in NF1 and Legius syndrome, a gene testing is necessary to give a final diagnose. We suggested to use “Neurofibromatosis type 1—like syndrome” to describe those patients just like our patient reported here.