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Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care
Genetics in Medicine, 20 (2018), 9; 965-975. https://doi.org/10.1038/gim.2017.221
Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpić, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia Više autora...

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S. ... Garavelli, L. (2018). Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care. Genetics in Medicine, 20. (9), 965-975. doi: 10.1038/gim.2017.221

Ivanovski, Ivan, et al. "Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care." Genetics in Medicine, vol. 20, br. 9, 2018, str. 965-975. https://doi.org/10.1038/gim.2017.221

Ivanovski, Ivan, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, et al. "Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care." Genetics in Medicine 20, br. 9 (2018): 965-975. https://doi.org/10.1038/gim.2017.221

Ivanovski, I., et al. (2018) 'Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care', Genetics in Medicine, 20(9), str. 965-975. doi: 10.1038/gim.2017.221

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, i sur.. Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care. Genetics in Medicine [Internet]. 2018. [pristupljeno 11.05.2024.];20(9):965-975. doi: 10.1038/gim.2017.221

I. Ivanovski, et al., "Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care", Genetics in Medicine, vol. 20, br. 9, str. 965-975, 2018. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:623412. [Citirano: 11.05.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:623412
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Naslov (engleski)Phenotype and genotype of 87 patients with Mowat– Wilson syndrome and recommendations for care
AutorIvan Ivanovski
AutorOlivera Djuric
AutorStefano Giuseppe Caraffi
AutorDaniela Santodirocco
AutorMarzia Pollazzon
AutorSimonetta Rosato
AutorDuccio Maria Cordelli
AutorEbtesam Abdalla
AutorPatrizia Accorsi
AutorMargaret P Adam
AutorPaola Francesca Ajmone
AutorMagdalena Badura-Stronka
AutorChiara Baldo
AutorMaddalena Baldi
AutorAllan Bayat
AutorStefania Bigoni
AutorFederico Bonvicini
AutorJeroen Breckpot
AutorBert Callewaert
AutorGuido Cocchi
AutorGoran Cuturilo
AutorDaniele De Brasi
AutorKoenraad Devriendt
AutorMary Beth Dinulos
AutorTina Duelund Hjortshøj
AutorRoberta Epifanio
AutorFrancesca Faravelli
AutorAgata Fiumara
AutorDebora Formisano
AutorLucio Giordano
AutorMarina Grasso
AutorSabine Grønborg
AutorAlessandro Iodice
AutorLorenzo Iughetti
AutorVladimir Kuburovic
AutorAnna Kutkowska-Kazmierczak
AutorDidier Lacombe
AutorCaterina Lo Rizzo
AutorAnna Luchetti
AutorBaris Malbora
AutorIsabella Mammi
AutorFrancesca Mari
AutorGiulia Montorsi
AutorSebastien Moutton
AutorRikke S Møller
AutorPetra Muschke
AutorJens Erik Klint Nielsen
AutorEwa Obersztyn
AutorChiara Pantaleoni
AutorAlessandro Pellicciari
AutorMaria Antonietta Pisanti
AutorIgor Prpić
AutorMaria Luisa Poch-Olive
AutorFederico Raviglione
AutorAlessandra Renieri
AutorEmilia Ricci
AutorFrancesca Rivieri
AutorGijs W Santen
AutorSalvatore Savasta
AutorGioacchino Scarano
AutorIna Schanze
AutorAngelo Selicorni
AutorMargherita Silengo
AutorRobert Smigiel
AutorLuigina Spaccini
AutorGiovanni Sorge
AutorKrzysztof Szczaluba
AutorLuigi Tarani
AutorLuis Gonzaga Tone
AutorAnnick Toutain
AutorAurelien Trimouille
AutorElvis Terci Valera
AutorSamantha Schrier Vergano
AutorNicoletta Zanotta
AutorMartin Zenker
AutorAndrea Conidi
AutorMarcella Zollino
AutorAnita Rauch
AutorChristiane Zweier
AutorLivia Garavelli
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za pedijatriju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations. Conclusion: Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaGenetics in Medicine
Brojčani podacivol. 20, br. 9, str. 965-975
p-ISSN1098-3600
DOIhttps://doi.org/10.1038/gim.2017.221
URN:NBNurn:nbn:hr:184:623412
Datum objave publikacije2018
URL dokumentahttp://bib.irb.hr/1047682
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2022-03-02 13:21:17