Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses

OBJECTIVE: To diagnose and explore the genetic aetiology of Simpson–Golabi–Behmel syndrome type 1 (SGBS1) in two male fetuses. METHODS: Prenatal ultrasound scans and further genetic analysis using karyotype analysis, chromosomal microarray analysis, whole exome sequencing (WES) and Sanger sequencing...

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Vydáno v:J Int Med Res
Hlavní autoři: Xiang, Jingjing, Zhang, Qin, Song, Xiaoyan, Liu, Yinghua, Li, Haibo, Li, Hong, Wang, Ting
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2019
Témata:
Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140209/
https://ncbi.nlm.nih.gov/pubmed/31304847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519859752
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