Associated Papers
Bosley-Salih-Alorainy syndrome in patients from India.
Patil SJ et al.
American Journal of Medical Genetics. Part A, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
The clinical spectrum of homozygous HOXA1 mutations.
Bosley TM et al.
American Journal of Medical Genetics. Part A, 2008
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
Tischfield MA et al.
Nature Genetics, 2005
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