Molecular analysis of the PDS gene in Pendred syndrome.
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organified w...
| 主要な著者: | , , , , , , , , , , , , , |
|---|---|
| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
1998
|