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FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.

Abstract:

Lymphedema-distichiasis (LD) (OMIM 153400) is a rare autosomal-dominant condition characterized by pubertal onset of lower limb lymphedema and an aberrant second row of eyelashes arising from the meibomian glands. In some patients cardiac, skeletal and other defects coexist. We previously identified inactivating, nonsense and frameshift mutations in the forkhead transcription factor FOXC2 in affected members of LD families. To further delineate the relationship of FOXC2 deficiency to the clin...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddg123

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Journal:
Human molecular genetics
Volume:
12
Issue:
10
Pages:
1179-1185
Publication date:
2003-05-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
102442
Language:
English
Keywords:
Pubs id:
pubs:102442
UUID:
uuid:c517d45e-15d5-40eb-9c12-43bdcbcfa1fd
Local pid:
pubs:102442
Deposit date:
2012-12-19

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