@article{40ea058ae4d14848a1adf0e42e5511ec,
title = "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development",
abstract = "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, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.",
author = "Tischfield, {Max A.} and Bosley, {Thomas M.} and Salih, {Mustafa A.M.} and Alorainy, {Ibrahim A.} and Sener, {Emin C.} and Nester, {Michael J.} and Oystreck, {Darren T.} and Chan, {Wai Man} and Caroline Andrews and Erickson, {Robert P.} and Engle, {Elizabeth C.}",
note = "Funding Information: We thank the family members for their participation; H. Kinney, R. Robertson, K. Yamada, H. Etchevers, J. Tischfield and C. Walsh for discussions and manuscript review; and C. Dow for technical expertise. This work was supported by the US National Institutes of Health (E.C.E.) and the Muscular Dystrophy Association and the Holslaw Family Professorship (R.P.E.).",
year = "2005",
month = oct,
doi = "10.1038/ng1636",
language = "English (US)",
volume = "37",
pages = "1035--1037",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "10",
}