NKX2.1-Related Disorders: a novel mutation with mild clinical presentation

BACKGROUND: A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild...

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Detalles Bibliográficos
Autores principales: Monti, Sara, Nicoletti, Annalisa, Cantasano, Antonella, Krude, Heiko, Cassio, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477322/
https://www.ncbi.nlm.nih.gov/pubmed/26103969
http://dx.doi.org/10.1186/s13052-015-0150-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477322/
https://www.ncbi.nlm.nih.gov/pubmed/26103969
http://dx.doi.org/10.1186/s13052-015-0150-6

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