The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up Academic Article uri icon

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abstract

  • Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow-up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form.

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publication date

  • April 2016