Neuroimaging and neurological findings in patients with hypochondroplasia andFGFR3N540K mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995
2. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype;Bellus;Am J Hum Genet,2000
3. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia;Grosso;Am J Med Genet A,2003
4. Hypochondroplasia: Clinical and radiological aspects in 39 cases;Hall;Radiology,1979
5. The cerebral cortex malformation in thanatophoric dysplasia: Neuropathology and pathogenesis;Hevner;Acta Neuropathol (Berl),2005
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1. Discovery of TYRA-300: First Oral Selective FGFR3 Inhibitor for the Treatment of Urothelial Cancers and Achondroplasia;Journal of Medicinal Chemistry;2024-09-11
2. Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice;JCI Insight;2023-06-22
3. Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant;Experimental and Clinical Endocrinology & Diabetes;2022-11-28
4. Molecular Basis for Hypochondroplasia in Japan;Endocrines;2022-07-22
5. Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood;Annals of Pediatric Endocrinology & Metabolism;2022-06-30
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