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Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome...

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Detalles Bibliográficos
Autores principales:	Argente, Jesús, Flores, Raquel, Gutiérrez-Arumí, Armand, Verma, Bhupendra, Martos-Moreno, Gabriel Á, Cuscó, Ivon, Oghabian, Ali, Chowen, Julie A, Frilander, Mikko J, Pérez-Jurado, Luis A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2014
Materias:	Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958305/ https://www.ncbi.nlm.nih.gov/pubmed/24480542 http://dx.doi.org/10.1002/emmm.201303573

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