Jackson-Weiss Syndrome Latest Advances

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.

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.

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.

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.

Journal: American journal of medical genetics. Part A

Published: May 01, 2019

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.

Journal: International journal of pediatric otorhinolaryngology

Published: July 21, 2014

The molecular genetic background of hereditary craniosynostoses and chondrodysplasias

Journal: Ugeskrift for laeger

Published: September 27, 2001