Malan syndrome is associated with a loss of function in one of the two copies of the gene, referred to as NFIX haploinsufficiency. The one functioning copy of the gene does not produce enough NFIX protein for the body to function normally. xsmt truc tiep hom nay The NFIX protein plays an essential role in brain and muscle development as well as skeletogenesis. Most often, NFIX variants are de novo, meaning they occur spontaneously for the first time in the affected individual with no prior family history. xsmt truc tiep hom nay

Please visit www.Malansyndrome.org to learn more.