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Muram-Zborovski, T.M., Vaughn, C.P., Viskochil, D.H., Hanson, H., Mao, R. and Stevenson, D.A. (2010) NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. Journal of Medical Genetics, 152, 1973-1978.

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.