Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

J. Clin. Immunol.2014 Aug;34(6):607-10. doi:10.1007/s10875-014-0067-7. Epub 2014 Jun 17

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摘要

In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal atresia and immunodeficiency. Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.

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Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

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