title: Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.
authors.forename: Héctor M
authors.initials: HM
authors.lastname: Targovnik
authors.forename: Pierre F
authors.initials: PF
authors.lastname: Souchon
authors.forename: Gloria A
authors.initials: GA
authors.lastname: Machiavelli
authors.forename: Anne S
authors.initials: AS
authors.lastname: Salmon-Musial
authors.forename: Pierre L A
authors.initials: PL
authors.lastname: Mauran
authors.forename: Véronique
authors.initials: V
authors.lastname: Sulmont
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: Carina M
authors.initials: CM
authors.lastname: Rivolta
mesh_terms: 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*
chemical_list: D013954:Thyroglobulin