ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/ng1636
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