Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
Keywords: دیستروفی های شبکیه; Hypogonadism; Spinocerebellar ataxias; Retinal dystrophies; Phospholipases; Genetics; PNPLA6 mutation;