Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable and often overlap among different disorders. The molecular mechanisms underlying this condition...

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Autores principales: Chang, Ting-Yu, Chung, I-Fang, Wu, Wan-Ju, Chang, Shun-Ping, Lin, Wen-Hsiang, Ginsberg, Norman A., Ma, Gwo-Chin, Chen, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277976/
https://www.ncbi.nlm.nih.gov/pubmed/32392875
http://dx.doi.org/10.3390/diagnostics10050286

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