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Gene Hereditary Disorders quick links

 

Peripheral myeling protein 22 (PMP22) =  Charcot-Marie-Tooth disease

Cystrophin gene = Duchenne muscular dystrophy

FGFR-3 = Achondroplasia

fibrillin =  Marfans Syndrome

type I collagen genes COL1A1 or COL1A2 =  Osteogenesis Imperfecta

Androgen receptor = spinobulbar muscular atrophy (Kennedy's disease)

Survival motor neuron I (SMN-1) = Spinal muscular atrophy