Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

BACKGROUND: Intestinal malrotation is a potentially life‐threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%–1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Salehi Karlslätt, Karin, Pettersson, Maria, Jäntti, Nina, Szafranski, Przemyslaw, Wester, Tomas, Husberg, Britt, Ullberg, Ulla, Stankiewicz, Pawel, Nordgren, Ann, Lundin, Johanna, Lindstrand, Anna, Nordenskjöld, Agneta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355/
https://www.ncbi.nlm.nih.gov/pubmed/30632303
http://dx.doi.org/10.1002/mgg3.549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355/
https://www.ncbi.nlm.nih.gov/pubmed/30632303
http://dx.doi.org/10.1002/mgg3.549

Ejemplares similares