Associated Papers
Crouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant of the disease.
Soloveva EV et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a
Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series.
Matossian M et al.
Clinical Pediatrics, 2021
Therapeutic management of neuro-oncologic patients - potential relevance of CSF liquid biopsy.
von Baumgarten L et al.
Theranostics, 2020
31903155 (PubMed )
Supplement: thnov10p0856s1.pdf
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019
31318164 (PubMed )
Supplement: MGG3-7-e843-s002.doc
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
Biamino E et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
Goriely A et al.
American Journal of Medical Genetics. Part A, 2010
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