Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations

Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2 and is characterized by genital hypoplasia, neonatal hypotonia, developmental delay, intellectual disability, autism spectrum...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Naixin, Shi, Weihui, Cao, Xianling, Zhou, Xuanyou, Huang, Hefeng, Chen, Songchang, Xu, Chenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962152/
https://www.ncbi.nlm.nih.gov/pubmed/36836222
http://dx.doi.org/10.3390/jcm12041688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962152/
https://www.ncbi.nlm.nih.gov/pubmed/36836222
http://dx.doi.org/10.3390/jcm12041688

Ejemplares similares