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A novel immunodeficiency syndrome associated with partial trisomy 19p13.
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.
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
Woutsas S, Aytekin C, Salzer E, Conde CD, Apaydin S, Pichler H, Memaran-Dadgar N, Hosnut FO, Förster-Waldl E, Matthes S, Huber WD, Lion T, Holter W, Bilic I, Boztug K.
Woutsas S, et al.
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.
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