Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

• Main Authors: Yang, W., Lee, P.P.W., Thong, Meow Keong, Ramanujam, T.M., Shanmugam, A., Koh, M.T., Chan, K.W., Ying, D., Wang, Y., Shen, J.J., Yang, J., Lau, Y.L.
• Format: Article
• Published: Wiley 2015
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/19410/; http://dx.doi.org/10.1111/cge.12553

Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes an...