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Article

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

American journal of medical genetics. Part A - 1 Aug 2020

Verberne Eline A, Faries Sonja, Mannens Marcel M A M, Postma Alex V, van Haelst Mieke M

Abstract excerpt

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 component of the minor spliceosome. The minor spliceosome plays a role in the splicing of minor (U12-type) introns, which...

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Identifiers

PMID: 32462814
DOI: 10.1002/ajmg.a.61632
PMCID: PMC7496482

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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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