Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P.
Pascual P, et al.
Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664.
Genes (Basel). 2023.
PMID: 37761804
Free PMC article.
Review.
Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and …
Additionally, none of the variants described here were reported in control population databases, and most computational predictors su …