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Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397.
Blood. 2015.
PMID: 25745186
Free PMC article.
No abstract available.
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
Seidel MG, Duerr C, Woutsas S, Schwerin-Nagel A, Sadeghi K, Neesen J, Uhrig S, Santos-Valente E, Pickl WF, Schwinger W, Urban C, Boztug K, Förster-Waldl E.
Seidel MG, et al. Among authors: woutsas s.
J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15.
J Med Genet. 2014.
PMID: 24431329
Free PMC article.
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