Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.

Autor: Del Pino M; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina., Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Diaz-Gonzalez F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain., Obregon MG; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Heath KE; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Fano V; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2240-2244. Date of Electronic Publication: 2023 May 02.
DOI: 10.1002/ajmg.a.63227
Databáze: MEDLINE
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