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Article

An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2021

Xu Ting, Shi Liang, Dai Weiqian, Gu Xuefan, Yu Yongguo, Fan Yanjie

Abstract excerpt

OBJECTIVES: Achondroplasia and hypochondroplasia are the most common forms of disproportionate short stature, of which the vast majority of cases can be attributed to the hotspot missense mutations in the gene FGFR3. Here we presented cases with a novel cryptic splicing variant of FGFR3 gene and aimed to interrogate the variant pathogenicity. CASE PRESENTAITON: In whole exome sequencing of two patients with...

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Identifiers

PMID: 34162030
DOI: 10.1515/jpem-2020-0679

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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