Associated Papers
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 2025
Bosley-Salih-Alorainy syndrome in patients from India.
Patil SJ et al.
American Journal of Medical Genetics. Part A, 2020
HOXA1 gene is not potentially related to ventricular septal defect in Chinese children.
Liu J et al.
Pediatric Cardiology, 2013
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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