Hartsfield Syndrome Latest Advances

Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome.

Journal: Prenatal diagnosis

Published: August 29, 2025

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Journal: Medical sciences (Basel, Switzerland)

Published: July 29, 2025

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

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Journal: Genes

Published: April 05, 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.

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

Hartsfield Syndrome Latest Advances

Find the Latest Research About Hartsfield Syndrome

Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome.

Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.

Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.

Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.

Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.

Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.

Mosaicism in Hartsfield syndrome.

Mosaicism in Hartsfield syndrome.

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.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.