Disease: Jackson-Weiss syndrome
- A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis
- Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred
- Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature
- Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review
- Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery
- Fibroblast Growth Factor Receptor 2 (<em>FGFR2</em>) Mutation Related Syndromic Craniosynostosis
- Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes
- Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms
- Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings
- Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences
- Jackson-Weiss syndrome
- Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
- Molecular Mechanisms Involved in Craniosynostosis
- Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses
- Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
- Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome
- Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo <em>FGFR2</em> Pathogenic Variant
- Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant
- Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis
- Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant
- Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
- Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant
- Syndromic craniosynostosis: from history to hydrogen bonds
- The molecular genetic background of hereditary craniosynostoses and chondrodysplasias