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Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664.
Genes (Basel). 2023.
PMID: 37761804
Free PMC article.
Review.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C.
Fernández-Caballero L, et al. Among authors: sanchez barbero ai.
Int J Mol Sci. 2024 Mar 2;25(5):2913. doi: 10.3390/ijms25052913.
Int J Mol Sci. 2024.
PMID: 38474159
Free PMC article.
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