Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing

WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki–Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which...

Descripción completa

Detalles Bibliográficos
Autores principales: Meng, Yan, Yang, Jun, Tian, Chan, Qiao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245943/
https://www.ncbi.nlm.nih.gov/pubmed/32446308
http://dx.doi.org/10.1186/s41065-020-00132-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245943/
https://www.ncbi.nlm.nih.gov/pubmed/32446308
http://dx.doi.org/10.1186/s41065-020-00132-2

Ejemplares similares