Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review

Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing has rapidly revolutionized molecular diagnostic approaches in fetuses with structural anomalies. This review studies the additional...

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Detalles Bibliográficos
Autores principales: Tse, Kai Yeung, Surya, Ilham Utama, Irwinda, Rima, Leung, Kwok Yin, Ting, Yuen Ha, Cao, Ye, Choy, Kwong Wai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Systematic Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298097/
https://www.ncbi.nlm.nih.gov/pubmed/37372383
http://dx.doi.org/10.3390/genes14061203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298097/
https://www.ncbi.nlm.nih.gov/pubmed/37372383
http://dx.doi.org/10.3390/genes14061203

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