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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: nigro v. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Are SHROOM4 loss-of-function variants pathogenic?
Peduto C, Piluso G, Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: nigro v. Am J Med Genet A. 2022 Nov;188(11):3374-3375. doi: 10.1002/ajmg.a.62935. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 36209347 No abstract available.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N. Cappuccio G, et al. Among authors: nigro v. Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35876338 Free PMC article.
333 results