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Article

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

EMBO molecular medicine - 1 Mar 2014

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

Abstract excerpt

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 protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12-type introns. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24480542
DOI: 10.1002/emmm.201303573
PMCID: PMC3958305

Genes

RNPC3
SPCS2
SPCS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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