Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant diseases. Although clinical phenotypes of adults and children have been reported, fetal ultrasonic phenotypes are rarely reported. A retrospective analysis of 6,200 pregnant women who received invasive prenatal diagnosis...

Descripción completa

Detalles Bibliográficos
Autores principales: Cai, Meiying, Fu, Xianguo, Xu, Liangpu, Lin, Na, Huang, Hailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724517/
https://www.ncbi.nlm.nih.gov/pubmed/34992630
http://dx.doi.org/10.3389/fgene.2021.779237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724517/
https://www.ncbi.nlm.nih.gov/pubmed/34992630
http://dx.doi.org/10.3389/fgene.2021.779237

Ejemplares similares