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

Detalles Bibliográficos
Autores principales: Bruno, Lucia Pia, Doddato, Gabriella, Baldassarri, Margherita, Rizzo, Caterina Lo, Resciniti, Sara, Bruttini, Mirella, Mirjam, Lista, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Letters
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092205/
https://www.ncbi.nlm.nih.gov/pubmed/36210549
http://dx.doi.org/10.1002/ajmg.a.62984
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author Bruno, Lucia Pia
Doddato, Gabriella
Baldassarri, Margherita
Rizzo, Caterina Lo
Resciniti, Sara
Bruttini, Mirella
Mirjam, Lista
Zguro, Kristina
Furini, Simone
Mencarelli, Maria Antonietta
Renieri, Alessandra
Ariani, Francesca
author_facet Bruno, Lucia Pia
Doddato, Gabriella
Baldassarri, Margherita
Rizzo, Caterina Lo
Resciniti, Sara
Bruttini, Mirella
Mirjam, Lista
Zguro, Kristina
Furini, Simone
Mencarelli, Maria Antonietta
Renieri, Alessandra
Ariani, Francesca
author_sort Bruno, Lucia Pia
collection PubMed
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spelling pubmed-100922052023-04-13 Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients Bruno, Lucia Pia Doddato, Gabriella Baldassarri, Margherita Rizzo, Caterina Lo Resciniti, Sara Bruttini, Mirella Mirjam, Lista Zguro, Kristina Furini, Simone Mencarelli, Maria Antonietta Renieri, Alessandra Ariani, Francesca Am J Med Genet A Research Letters John Wiley & Sons, Inc. 2022-10-09 2023-01 /pmc/articles/PMC10092205/ /pubmed/36210549 http://dx.doi.org/10.1002/ajmg.a.62984 Text en © 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Letters
Bruno, Lucia Pia
Doddato, Gabriella
Baldassarri, Margherita
Rizzo, Caterina Lo
Resciniti, Sara
Bruttini, Mirella
Mirjam, Lista
Zguro, Kristina
Furini, Simone
Mencarelli, Maria Antonietta
Renieri, Alessandra
Ariani, Francesca
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
title Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
title_full Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
title_fullStr Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
title_full_unstemmed Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
title_short Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients
title_sort expanding the clinical spectrum associated with the pacs1 p.arg203trp mutational hot‐spot: two additional italian patients
topic Research Letters
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092205/
https://www.ncbi.nlm.nih.gov/pubmed/36210549
http://dx.doi.org/10.1002/ajmg.a.62984
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