Title : Haddad syndrome with PHOX2B gene mutation in a Korean infant.

Pub. Date : 2011 Feb

PMID : 21286029






1 Functional Relationships(s)
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1 These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung"s disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. polyalanine paired like homeobox 2B Homo sapiens