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

Am J Med Genet A. 2023 Jan;191(1):284-288. doi: 10.1002/ajmg.a.62984. Epub 2022 Oct 9.

Authors

Lucia Pia Bruno^{1

2}, Gabriella Doddato^{1

2}, Margherita Baldassarri^{1

2}, Caterina Lo Rizzo³, Sara Resciniti^{1

2}, Mirella Bruttini^{1

2

3}, Lista Mirjam^{1

2}, Kristina Zguro², Simone Furini², Maria Antonietta Mencarelli³, Alessandra Renieri^{1

2

3}, Francesca Ariani^{1

2

3}

Affiliations

¹ Medical Genetics, University of Siena, Siena, Italy.
² Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
³ Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

No abstract available

Publication types

Letter

MeSH terms

Humans
Mutation
Vesicular Transport Proteins* / genetics

Substances

Vesicular Transport Proteins
PACS1 protein, human