Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.
Targovnik
Héctor M
HM
Souchon
Pierre F
PF
Machiavelli
Gloria A
GA
Salmon-Musial
Anne S
AS
Mauran
Pierre L A
PL
Sulmont
Véronique
V
Doco-Fenzy
Martine
M
Rivolta
Carina M
CM
D001483:Base Sequence; D003409:Congenital Hypothyroidism / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006042:Goiter / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D013954:Thyroglobulin / Q000235:genetics*
D013954:Thyroglobulin