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The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.
Krejci P. Krejci P. Mutat Res Rev Mutat Res. 2014 Jan-Mar;759:40-8. doi: 10.1016/j.mrrev.2013.11.001. Epub 2013 Dec 1. Mutat Res Rev Mutat Res. 2014. PMID: 24295726 Review.
Somatic mutations in receptor tyrosine kinase FGFR3 cause excessive cell proliferation, leading to cancer or skin overgrowth. Remarkably, the same mutations inhibit chondrocyte proliferation and differentiation in developing bones, resulting in skeletal dysplasias, such as …
Somatic mutations in receptor tyrosine kinase FGFR3 cause excessive cell proliferation, leading to cancer or skin overgrowth. Remarka …
Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.
Olivieri DJ, Massingham LJ, Schwab JL, Quintos JB. Olivieri DJ, et al. Case Rep Endocrinol. 2021 Jun 7;2021:5571524. doi: 10.1155/2021/5571524. eCollection 2021. Case Rep Endocrinol. 2021. PMID: 34194850 Free PMC article.
We report a 12 11/12-year-old girl born SGA who received GH for 5 years without catch-up growth and was diagnosed with Noonan Syndrome (NS). RESULTS: A 5-year-and-9-month-old 46, XX girl born SGA was started on GH treatment at a dose of 0.32 mg/kg/week. ...She was n …
We report a 12 11/12-year-old girl born SGA who received GH for 5 years without catch-up growth and was diagnosed with Noonan Synd …
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Kratz CP, et al. Am J Med Genet A. 2009 May;149A(5):1036-40. doi: 10.1002/ajmg.a.32786. Am J Med Genet A. 2009. PMID: 19396835
Craniosynostosis is frequently observed as an associated feature in a number of clinically and genetically heterogeneous syndromic conditions, including a group of disorders caused by activating mutations in genes coding for the fibroblast growth factor receptor family members FG …
Craniosynostosis is frequently observed as an associated feature in a number of clinically and genetically heterogeneous syndromic condition …