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Results 1 - 3 of 3 for Immunodeficiency 81
  1. Vici syndrome 
    ... autophagy. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  2. Cartilage-hair hypoplasia 
    ... Genet A. 2007 Nov 15;143A(22):2675-81. doi: 10.1002/ajmg.a.32053. Citation on ... dysplasia spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29. doi: 10.1086/521034. Epub ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  3. Ataxia-pancytopenia syndrome 
    ... 3):189-96. doi: 10.1016/0165-4608(81)90013-3. Citation on PubMed Li FP, Potter ... function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood. 2017 Apr 20; ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics