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Article

Haddad syndrome novel association with BRAF mutation.

Journal of neonatal-perinatal medicine - 1 Jan 2017

Al Dakhoul Suleiman

Abstract excerpt

This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with sleep. His diagnostic studies confirmed the diagnosis of congenital central hypoventilation syndrome CCHS (PHOX2B mutation) and Hirschsprung's disease and later found a further mutation of BRAF oncogene. This...

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Source

Identifiers

PMID: 29286936
DOI: 10.3233/NPM-16170

Genes

BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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