syndrome de Jackson-Weiss
Also known as Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities, JWS, Jackson-Weiss syndrome
maladie génétique rare
Research
24 papers- Jackson-Weiss syndrome.American journal of medical genetics · 2001
- Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.International journal of pediatric otorhinolaryngology · 2014
- Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.American journal of medical genetics. Part A · 2019
- Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?Pediatric radiology · 1997
- Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.Genes · 2025
via PubMed
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