Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

Pathogenic variants in components of the minor spliceosome have been associated with several human diseases. Recently, it was reported that biallelic RNPC3 variants lead to severe isolated growth hormone deficiency and pituitary hypoplasia. The RNPC3 gene codes for the U11/U12‐65K protein, a compone...

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Detalles Bibliográficos
Autores principales: Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496482/
https://www.ncbi.nlm.nih.gov/pubmed/32462814
http://dx.doi.org/10.1002/ajmg.a.61632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496482/
https://www.ncbi.nlm.nih.gov/pubmed/32462814
http://dx.doi.org/10.1002/ajmg.a.61632

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