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Last Updated: 10/31/2025
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Found 20 publications
Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
Journal: American journal of medical genetics. Part A
Published: May 07, 2025
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: April 28, 2024
Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
Journal: Prenatal diagnosis
Published: August 30, 2023
Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.
Journal: International journal of clinical pediatric dentistry
Published: April 06, 2023
Mosaicism in Hartsfield syndrome.
Journal: European journal of medical genetics
Published: November 09, 2021
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.
Journal: Journal of the Endocrine Society
Published: December 04, 2019
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Journal: American journal of medical genetics. Part A
Published: May 01, 2019
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
Journal: European journal of human genetics : EJHG
Published: August 28, 2018
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
Journal: Journal of dental research
Published: August 22, 2017
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
Journal: International journal of pediatric otorhinolaryngology
Published: March 01, 2017
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.
Journal: Human genome variation
Published: May 25, 2016
Last Updated: 10/31/2025