Two novel factor VII gene mutations in a Chinese family with factor VII deficiency

Jaundice and factor VII deficiency in newborn

Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...

Inherited factor VII deficiency

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.

In a patient with lethal factor VII (FVII) deficiency, 2 homozygous nucleotide substitutions were identified in the F7 gene: a IVS7+2T>G transversion involving the IVS7 donor splice site, followed by a mutation at nucleotide 10588 that would result in a missense variation (Arg224Gln). The mutated splice site, located within the first repeat of a minisatellite, is followed by a variable number o...

jaundice and factor vii deficiency in newborn

resistance to thyroid hormone is an uncommon condition. we report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. rth is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary tsh secretion and refractoriness to hormone action in peripheral tiss...

Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency.

A family with a peculiar defect of factor VII is described. The propositi, a brother and sister, were born of a nonconsanguineous marriage and presented a mild to moderate bleeding tendency since childhood (epistaxis, excessive bleeding after tooth extraction). The coagulation pattern was characterized by a mildly prolonged prothrombin time, normal partial thromboplastin time, and normal Stypve...