Journal article icon

Journal article

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Abstract:

Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic). The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. Pendred syndrome is an autosomal rece...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1038/ng0496-421

Authors


Armour, JA More by this author
Gausden, E More by this author
Hochberg, Z More by this author
Expand authors...
Journal:
Nature genetics
Volume:
12
Issue:
4
Pages:
421-423
Publication date:
1996-04-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:f106b48a-ea24-4599-b751-7c1e5d7810be
Source identifiers:
138637
Local pid:
pubs:138637

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP