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Molecular analysis of the PDS gene in Pendred syndrome.

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 ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/7.7.1105

Authors


Reardon, W More by this author
Herbrick, JA More by this author
Gausden, E More by this author
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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

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