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...

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Publicado no:J Genet Syndr Gene Ther
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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
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