Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Snijders-Blok-Campeau综合征:20例携带CHD3基因变异的患者的描述及文献综述
期刊:Genes
影响因子:2.8
doi:10.3390/genes14091664
Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silván, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, María; Rikeros, Emi; Ramos, Feliciano J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sánchez; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Martin Mesa, Carmen; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Domínguez; Seidel, Veronica; Suárez, Julia; Cormier-Daire, Valerie; Consortium, The Sogri; Nevado, Julián; Lapunzina, Pablo