Associated Papers
Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
An J et al.
American Journal of Medical Genetics. Part A, 2026
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM3_ESM.xlsx › S10_Screen_data_table
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Gaudioso F et al.
Medical Sciences (basel, Switzerland), 2025
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.
Kobayashi S et al.
Journal of the Endocrine Society, 2020
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C et al.
American Journal of Medical Genetics. Part A, 2019
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
Palumbo P et al.
European Journal of Human Genetics : Ejhg, 2019
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Syndromes associated with holoprosencephaly.
Kruszka P et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Hong S et al.
Human Molecular Genetics, 2016
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.
Takagi M et al.
Human Genome Variation, 2016
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical Genetics, 2013
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