Associated Papers
FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.
Schmetz A et al.
Genes, 2023
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Croft B et al.
Clinical Genetics, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Dobson SM et al.
American Journal of Medical Genetics. Part A, 2022
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Sentchordi-Montané L et al.
Clinical Genetics, 2021
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Thuresson AC et al.
Clinical Genetics, 2021
Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes.
Bird AD et al.
Human Molecular Genetics, 2020
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Rodriguez-Zabala M et al.
Human Mutation, 2017
Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.
Racca JD et al.
The Journal of Biological Chemistry, 2016
Cervical vertebrae fusion in elbow knee synostosis (Eks)-mutant mice with fibroblast growth factor 9 N143T mutation.
Djameh G et al.
Congenital Anomalies, 0
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