[A study of 2 congenital hypothyroid goiters in siblings: identification of a genetic abnormality in thyroid hormonogenesis marked by the absence of thyroglobulin and by the iodination of unsuitable proteins rich in iodohistidine and deficient in thyroxine].
D002648:Child; D003409:Congenital Hypothyroidism; D005260:Female; D006042:Goiter / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D007455:Iodine / Q000378:metabolism*; D007457:Iodine Radioisotopes; D007467:Iodoproteins / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors; D013954:Thyroglobulin; D013960:Thyroid Function Tests; D013963:Thyroid Hormones / Q000378:metabolism*
D007457:Iodine Radioisotopes; D007467:Iodoproteins; D013963:Thyroid Hormones; D013954:Thyroglobulin; D007455:Iodine
Etude de deux goitres hypothyroïdiens congénitaux dans la même fratrie: identification d'une anomalie génétique de l'hormogenèse thyroïdienne caractérisée par l'absence de thyroglobuline et par l'iodation de protéines inappropriées riches en iodohistidines et pauvres en thyroxine