Condition: Hypoplasia of mandibular condyle


rs121908557 in SCN4A;LOC105371858 gene and Hypoplasia of mandibular condyle PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.