Title : A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.

Pub. Date : 2014 Oct

PMID : 24799442






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1 We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. polyalanine paired like homeobox 2B Homo sapiens