Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01239.x/fullpdf
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3. Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID);Chakravarti;Pediatr Radiol,1991
4. Syndromes associated with immunodeficiency;Ming;Adv Pediatr,1999
5. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome;Roifman;J Allergy Clin Immunol,2006
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