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Article

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Human molecular genetics - 1 Jun 2018

Hong Sungkook, Hu Ping, Roessler Erich, Hu Tommy, Muenke Maximilian

Abstract excerpt

The utilization of next generation sequencing has been shown to accelerate gene discovery in human disease. However, our confidence in the correct disease-associations of rare variants continues to depend on functional analysis. Here, we employ a sensitive assay of human FGF8 variants in zebrafish to demonstrate that the spectrum of isoforms of FGF8 produced by alternative splicing can provide key insights into...

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Source

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Identifiers

PMID: 29584859
DOI: 10.1093/hmg/ddy106
PMCID: PMC6251617

Genes

FGF8
SHH

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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