Carregant...

Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung’s Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster

INTRODUCTION: Neuroblastoma (NB), Hirschsprung disease (HSCR), Congenital Central Hypoventilation Syndrome (CCHS), clinically referred as the NB-HSCR-CCHS cluster, are genetic disorders linked to mutations in the PHOX2B gene on chromosome 4p12. SPECIFIC AIM: The specific aim of this project is to de...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Genet Syndr Gene Ther
Autors principals: Szymońska, Izabela, Borgenvik, Thore Langfeldt, Karlsvik, Tina Margrethe, Halsen, Anders, Malecki, Bianka Kathryn, Saetre, Sindre Ervik, Jagła, Mateusz, Kruczek, Piotr, Talowska, Anna Madetko, Drabik, Grażyna, Zasada, Magdalena, Malecki, Marek
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4718609/
https://ncbi.nlm.nih.gov/pubmed/26798564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4172/2157-7412.1000269
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!