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

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 na...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Ejaz, Resham, Babul‐Hirji, Riyana, Chitayat, David
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4831382/
https://ncbi.nlm.nih.gov/pubmed/27099726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.425
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