Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA
Abstract Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD). Noninvasive prenatal diagnosis (NIPD) of 21-OHD was based on 14 plasma samples collected from 12 families, including f...
Guardado en:
Autores principales: | Dingyuan Ma, Yuan Yuan, Chunyu Luo, Yaoshen Wang, Tao Jiang, Fengyu Guo, Jingjing Zhang, Chao Chen, Yun Sun, Jian Cheng, Ping Hu, Jian Wang, Huanming Yang, Xin Yi, Wei Wang, Asan, Zhengfeng Xu |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2017
|
Materias: | |
Acceso en línea: | https://doaj.org/article/6f8ea90d5ab74192bfe5b60cee12ff4b |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency.
por: Ricardo P P Moreira, et al.
Publicado: (2012) -
Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond
por: Kavish Kohabir, et al.
Publicado: (2021) -
Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy
por: Jin XX, et al.
Publicado: (2021) -
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach
por: Ganye Zhao, et al.
Publicado: (2021) -
24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency
por: Adina F. Turcu, et al.
Publicado: (2021)