article_metadata: 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
article_metadata: 10.3389/fgene.2022.993064
article_metadata: Front Genet
article_metadata: 2022 Sep 28;13:993064.
article_metadata: cornelia de lange syndrome smc1a x-linked case report deep-sequencing genetic counseling parental mosaicism
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36246631/
article_metadata: Case Reports
article_metadata: PMC9554350
article_metadata: 36246631
article_metadata: Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
article_metadata: 2022