KEGG   VARIANT: 2249v1
Entry
2249v1                      Variant                                
Name
FGF4 mutation
Type
Loss of function
Gene
FGF4  fibroblast growth factor 4 [KO:K04358]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164980
Network
nt06526  MAPK signaling
Disease
H02157  Short-rib thoracic dysplasia
Reference
PMID:40259859
  Authors
Watts LM, Kinning E, Latner DR, Johnston M, Patrick-Esteve J, Cooper GM, Twigg SRF, Pagnamenta AT, Taylor JC
  Title
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.
  Journal
Clin Genet (2025)
DOI:10.1111/cge.14758
LinkDB

DBGET integrated database retrieval system