PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly

Holoprosencephaly (HPE) is a congenital forebrain defect often associated with embryonic lethality and lifelong disabilities. Currently, therapeutic and diagnostic options are limited by lack of knowledge of potential disease-causing mutations. We have identified a new mutation in the PRDM15 gene (C...

Descripción completa

Detalles Bibliográficos
Autores principales: Mzoughi, Slim, Di Tullio, Federico, Low, Diana H. P., Motofeanu, Corina-Mihaela, Ong, Sheena L. M., Wollmann, Heike, Wun, Cheng Mun, Kruszka, Paul, Muenke, Maximilian, Hildebrandt, Friedhelm, Dunn, N. Ray, Messerschmidt, Daniel M., Guccione, Ernesto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954057/
https://www.ncbi.nlm.nih.gov/pubmed/31950080
http://dx.doi.org/10.1126/sciadv.aax9852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954057/
https://www.ncbi.nlm.nih.gov/pubmed/31950080
http://dx.doi.org/10.1126/sciadv.aax9852

Ejemplares similares