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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: merlini l. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?
Garcia-Tarodo S, Bottani A, Merlini L, Kaelin A, Schwitzgebel VM, Parvex P, Dayer R, Lascombes P, Korff CM. Garcia-Tarodo S, et al. Among authors: merlini l. Eur J Paediatr Neurol. 2015 May;19(3):367-71. doi: 10.1016/j.ejpn.2014.12.016. Epub 2015 Jan 3. Eur J Paediatr Neurol. 2015. PMID: 25596067
480 results