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10.1002/ajmg.1320150306.abs To date, familial idiopathic gonadotropin deficiency (FIGD) has not been delineated as either a hypothalamic or a pituitary form of hypogonadism. Leydig cell sensitivity to human chorionic gonadotropin (HCG) has also been suggested as subnormal in FIGD. Also, in a few...
10.1002/ajmg.1320150307.abs Among 18 NIH probands with anosmia and hypogonadotropic hypogonadism (AHH), seven had affected relatives and three had consanguineous parents. Both sexes were equally affected and parents were phenotypically normal. Parental age was not increased. Cleft lip and palate...
10.1002/ajmg.1320150310.abs Previous reports suggest that duplication of the distal part of 2p causes a distinct syndrome. Of the 20 published cases, all resulted from a parental translocation. We report here clinical and cytogenetic data on three patients with dup(2p) and few, if any, of the...
10.1002/ajmg.1320150313.abs Plasma levels of creatine kinase (CK) were measured in 14 abortuses, nine of which were at risk for Duchenne muscular dystrophy (DMD). The plasma CK level was found to be increased in all abortuses, compared with the value obtained by fetoscopy before the termination....
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