Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.

Autor: Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Doddato G; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Baldassarri M; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Resciniti S; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Bruttini M; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mirjam L; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Zguro K; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Furini S; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Ariani F; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 284-288. Date of Electronic Publication: 2022 Oct 09.
DOI: 10.1002/ajmg.a.62984
Databáze: MEDLINE
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