Growth and Neurodevelopmental Disorder with Arthrogryposis, Microcephaly and Structural Brain Anomalies Caused by Bi-allelic Partial Deletion of SMPD4 gene

Neutral sphingomyelinases have an important role in generation of ceramide and phosphorylcholine from sphingomyelins which then act as secondary messengers in various signaling pathways of the cellular machinery. They function ubiquitously with a predominant role in the central nervous system. Neutr...

Descripción completa

Detalles Bibliográficos
Autores principales: Bijarnia-Mahay, Sunita, Somashekar, Puneeth H, Kaur, Parneet, Kulshreshtha, Samarth, Ramprasad, Vedam L, Murugan, Sakthivel, Sud, Seema, Shukla, Anju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8930277/
https://www.ncbi.nlm.nih.gov/pubmed/34621002
http://dx.doi.org/10.1038/s10038-021-00981-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8930277/
https://www.ncbi.nlm.nih.gov/pubmed/34621002
http://dx.doi.org/10.1038/s10038-021-00981-3

Ejemplares similares