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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Int Med Res
Main Authors: Xiang, Jingjing, Zhang, Qin, Song, Xiaoyan, Liu, Yinghua, Li, Haibo, Li, Hong, Wang, Ting
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2019
Assuntos:
Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados