Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family

Objective: To explore the genetic bias in a Chinese family suspected of having congenital nephrotic syndrome of the Finnish type (CNF). Case report: We developed a prenatal genetic diagnosis in a Chinese family with CNF. A single heterozygous mutation (c.3213delG) was found in the foetus IId and we...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Yuling Gu, Bing Han, Xiaolan Zhu, Youguo Chen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2021-07-01
coleção:	Taiwanese Journal of Obstetrics & Gynecology
Assuntos:	Congenital nephrotic syndrome of the Finnish type NPHS1 Nephrin Prenatal diagnosis Next-generation sequencing
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S102845592100142X
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!