Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort

Autor: Vecchio, Davide ^{a, ⁎}, Panfili, Filippo M. ^a, Macchiaiolo, Marina ^a, Dentici, Maria Lisa ^a, Trivisano, Marina ^b, Medina, Carolina Benitez ^a, Capolino, Rossella ^a, Salzano, Emanuela ^c, Cortellessa, Fabiana ^a, Busè, Martina ^c, Pantaleo, Antonio ^c, Cocciadiferro, Dario ^d, Gonfiantini, Michaela V. ^a, Niceta, Marcello ^e, De Dominicis, Angela ^b, Specchio, Nicola ^b, Piccione, Maria ^{c, f}, Digilio, Maria Cristina ^a, Tartaglia, Marco ^e, Novelli, Antonio ^d, Bartuli, Andrea ^a

Publikováno v: In European Journal of Medical Genetics February 2025 73

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Autor: Macchiaiolo, Marina¹ (AUTHOR) marina.macchiaiolo@opbg.net, Panfili, Filippo M.^2,3 (AUTHOR), Vecchio, Davide¹ (AUTHOR), Gonfiantini, Michaela V.¹ (AUTHOR), Cortellessa, Fabiana¹ (AUTHOR), Caciolo, Cristina⁴ (AUTHOR), Zollino, Marcella^5,6 (AUTHOR), Accadia, Maria⁷ (AUTHOR), Seri, Marco⁸ (AUTHOR), Chinali, Marcello⁹ (AUTHOR), Mammì, Corrado¹⁰ (AUTHOR), Tartaglia, Marco¹¹ (AUTHOR), Bartuli, Andrea¹ (AUTHOR), Alfieri, Paolo⁴ (AUTHOR), Priolo, Manuela¹⁰ (AUTHOR) prioloma@libero.it

Publikováno v: Orphanet Journal of Rare Diseases. 6/18/2022, Vol. 17 Issue 1, p1-16. 16p.

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Autor: Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

Publikováno v: Orphanet Journal of Rare Diseases. 17

Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical information

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff37bcdce2af39ca0723eae70689851
https://doi.org/10.1186/s13023-022-02384-9