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Journal article

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Abstract:

HOXD13, the most 5' gene of the HOXD cluster, encodes a homeodomain transcription factor with important functions in limb patterning and growth. Heterozygous mutations of human HOXD13, encoding polyalanine expansions or frameshifts, are believed to act by dominant negative or haploinsufficiency mechanisms and are predominantly associated with synpolydactyly phenotypes. Here, we describe two mutations of HOXD13 (923C-->G encoding Ser308Cys and 940A-->C encoding Ile314Leu) that cause miss...

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Publication status:
Published

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Publisher copy:
10.1086/374721

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Journal:
American journal of human genetics More from this journal
Volume:
72
Issue:
4
Pages:
984-997
Publication date:
2003-04-01
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Language:
English
Keywords:
Pubs id:
pubs:23564
UUID:
uuid:62a1639a-023c-4154-af79-46e36461b3cd
Local pid:
pubs:23564
Source identifiers:
23564
Deposit date:
2012-12-19

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