Marta Gil-Salvador Ana Latorre-Pellicer Cristina Lucia-Campos María Arnedo María Teresa Darnaude Aránzazu Díaz de Bustamante Rebeca Villares Carmen Palma Milla Beatriz Puisac Antonio Musio Feliciano J Ramos Juan Pié
10.3389/fgene.2022.993064
Front Genet
2022 Sep 28;13:993064.
cornelia de lange syndrome smc1a x-linked case report deep-sequencing genetic counseling parental mosaicism
CC BY
https://pubmed.ncbi.nlm.nih.gov/36246631/
Case Reports
PMC9554350
36246631
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
2022