Article
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Clinical genetics - 1 Dec 2015
Yang W, Lee P P W, Thong M-K, Ramanujam T M, Shanmugam A, Koh M-T, Chan K-W, Ying D, Wang Y, Shen J J, Yang J, Lau Y L
Abstract excerpt
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 and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations...
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