Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up

BACKGROUND: Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. OBJECTIVES: Our study aimed to refine the genotype–phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of providing da...

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Detalles Bibliográficos
Autores principales: Hu, Huamei, Huang, Yulin, Hou, Renke, Xu, Huanhuan, Liu, Yalan, Liao, Xueqian, Xu, Juchun, Jiang, Lupin, Wang, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069036/
https://www.ncbi.nlm.nih.gov/pubmed/37013593
http://dx.doi.org/10.1186/s12920-023-01493-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069036/
https://www.ncbi.nlm.nih.gov/pubmed/37013593
http://dx.doi.org/10.1186/s12920-023-01493-z

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