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_MOESM6_ESM.xlsx › Figure_E3b
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
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