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Last Updated: 10/31/2025

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Found 23 publications

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.

Journal: Genes
Published: April 05, 2025

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: August 03, 2020

Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant.

Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant.

Journal: The Journal of craniofacial surgery
Published: November 26, 2019

Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.

Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: May 25, 2019

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Journal: American journal of medical genetics. Part A
Published: May 01, 2019

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Journal: American journal of medical genetics. Part A
Published: May 02, 2016

Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.

Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.

Journal: International journal of pediatric otorhinolaryngology
Published: July 21, 2014

The molecular genetic background of hereditary craniosynostoses and chondrodysplasias

The molecular genetic background of hereditary craniosynostoses and chondrodysplasias

Journal: Ugeskrift for laeger
Published: September 27, 2001

Jackson-Weiss syndrome.

Jackson-Weiss syndrome.

Journal: American journal of medical genetics
Published: May 09, 2001

Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred.

Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred.

Journal: American journal of medical genetics
Published: May 09, 2001

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

Journal: American journal of medical genetics
Published: June 22, 2000

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Journal: Human genetics
Published: January 07, 1998
Showing 1-12 of 23

Last Updated: 10/31/2025