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Journal article

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

Abstract:

Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, dental abnormalities, dysmorphic features, and mental retardation in some cases. Previous studies have mapped the disease gene to a 2 cM interval on Xp22.2 between DXS43 and DXS999. We report additional linkage data resulting from the analysis of eleven independent NHS families. A maximum lod score of 9.94 (theta=0.00) was obtained at the RS1 locus and a recombination with locus DXS1195 on the telomeric...

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Publication status:
Published

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Publisher copy:
10.1038/sj.ejhg.5200846

Authors


Toutain, A More by this author
Ferrante, MI More by this author
Tranchemontagne, J More by this author
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Journal:
European journal of human genetics : EJHG
Volume:
10
Issue:
9
Pages:
516-520
Publication date:
2002-09-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:f9f97755-337a-4c27-8d47-6332a4eb63f5
Source identifiers:
346157
Local pid:
pubs:346157

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