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Brain-Derived Neurotropic Factor Deficiency

MedGen UID:
887143
•Concept ID:
C4055350
•
Finding
Synonym: BDNF Deficiency

Definition

Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrain-Derived Neurotropic Factor Deficiency

Recent clinical studies

Prognosis

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM
Hum Mol Genet 2009 Feb 1;18(3):525-34. Epub 2008 Nov 10 doi: 10.1093/hmg/ddn380. PMID: 19000991Free PMC Article

Clinical prediction guides

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM
Hum Mol Genet 2009 Feb 1;18(3):525-34. Epub 2008 Nov 10 doi: 10.1093/hmg/ddn380. PMID: 19000991Free PMC Article

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