- Tytuł:
-
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene. - Autorzy:
- Źródło:
- European journal of pediatrics [Eur J Pediatr] 2013 Jul; Vol. 172 (7), pp. 959-64. Date of Electronic Publication: 2013 Mar 03.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Point Mutation*
Congenital Hypothyroidism /*genetics
Thyroglobulin/*genetics
Adolescent ; Adult ;Congenital Hypothyroidism /pathology ; Consanguinity ; Fathers ; Female ; Gene Amplification ; Humans ; Male ; Sequence Analysis, DNA ; Siblings ; Thyroid Function Tests
Czasopismo naukowe