- Abstract:
-
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 with variable effects upon thyroid hormone biosynthesis, whilst the molecular basis of the hearing loss is unknown. The PDS gene has been identified by positional cloning of chromosome 7q31, within ...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1093/hmg/7.7.1105
-
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- Journal:
- Human molecular genetics
- Volume:
- 7
- Issue:
- 7
- Pages:
- 1105-1112
- Publication date:
- 1998-07-05
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
- URN:
-
uuid:76f7c5a3-79f7-426c-8673-bea1aa40e96c
- Source identifiers:
-
138685
- Local pid:
- pubs:138685
- Language:
- English
- Keywords:
- Copyright date:
- 1998
Journal article
Molecular analysis of the PDS gene in Pendred syndrome.
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