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Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3428093

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

About this item

Full title

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

Publisher

United States: American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2012-09, Vol.122 (9), p.3145-3158

Language

English

Formats

Publication information

Publisher

United States: American Society for Clinical Investigation

Subjects

Subjects and topics

More information

Scope and Contents

Contents

The most common forms of neurocristopathy in the autonomic nervous system are Hirschsprung disease (HSCR), resulting in congenital loss of enteric ganglia, and neuroblastoma (NB), childhood tumors originating from the sympathetic ganglia and adrenal medulla. The risk for these diseases dramatically increases in patients with congenital central hypo...

Alternative Titles

Full title

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3428093

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3428093

Other Identifiers

ISSN

0021-9738

E-ISSN

1558-8238

DOI

10.1172/JCI63401

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