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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.
Genet Med. 2018.
PMID: 29300384
Free article.
RIN2 syndrome: Expanding the clinical phenotype.
Rosato S, Syx D, Ivanovski I, Pollazzon M, Santodirocco D, De Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F.
Rosato S, et al. Among authors: santodirocco d.
Am J Med Genet A. 2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8.
Am J Med Genet A. 2016.
PMID: 27277385
Review.
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.
Garavelli L, et al. Among authors: santodirocco d.
Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.
Genet Med. 2017.
PMID: 27831545
Free PMC article.
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