TY - STD TI - Derry, J. M., Ochs, H. D. & Francke, U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 79, following 922 (1994). ID - ref1 ER - TY - JOUR AU - Binder, V. PY - 2006 DA - 2006// TI - The genotype of the original Wiskott phenotype JO - N Engl J Med VL - 355 UR - https://doi.org/10.1056/NEJMoa062520 DO - 10.1056/NEJMoa062520 ID - Binder2006 ER - TY - STD TI - Wiskott, A. Familiarer, angeborener morbus werlhofii. Monatsschrift fur kinderheilkunde. 212–216 (1936). ID - ref3 ER - TY - JOUR AU - Aldrich, R. A. AU - Steinberg, A. G. AU - Campbell, D. C. PY - 1954 DA - 1954// TI - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea JO - Pediatrics VL - 13 ID - Aldrich1954 ER - TY - STD TI - Baharin MF, Dhaliwal JS, Sarachandran SVV, Idris SZ, Yeoh SL. A rare case of Wiskott-Aldrich syndrome with normal platelet size: a case report. J Med Case Rep. 2016;10. ID - ref5 ER - TY - JOUR AU - Yoonessi, L. PY - 2015 DA - 2015// TI - Wiskott-Aldrich syndrome: description of a new gene mutation with Normal platelet volume JO - J Pediatr Hematol Oncol VL - 37 UR - https://doi.org/10.1097/MPH.0000000000000392 DO - 10.1097/MPH.0000000000000392 ID - Yoonessi2015 ER - TY - JOUR AU - Knox-Macaulay, H. H. AU - Bashawri, L. AU - Davies, K. E. PY - 1993 DA - 1993// TI - X linked recessive thrombocytopenia JO - J Med Genet VL - 30 UR - https://doi.org/10.1136/jmg.30.11.968 DO - 10.1136/jmg.30.11.968 ID - Knox-Macaulay1993 ER - TY - JOUR AU - Blundell, M. P. AU - Worth, A. AU - Bouma, G. AU - Thrasher, A. J. PY - 2010 DA - 2010// TI - The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function JO - Dis Markers VL - 29 UR - https://doi.org/10.1155/2010/781523 DO - 10.1155/2010/781523 ID - Blundell2010 ER - TY - JOUR AU - Howard, K. AU - Hall, C. P. AU - Al-Rahawan, M. M. PY - 2016 DA - 2016// TI - Wiskott-Aldrich syndrome: description of a new gene mutation without immunodeficiency JO - J Pediatr Hematol Oncol VL - 38 UR - https://doi.org/10.1097/MPH.0000000000000479 DO - 10.1097/MPH.0000000000000479 ID - Howard2016 ER - TY - JOUR AU - Ochs, H. D. PY - 1980 DA - 1980// TI - The Wiskott-Aldrich syndrome JO - Blood. VL - 55 UR - https://doi.org/10.1182/blood.V55.2.243.243 DO - 10.1182/blood.V55.2.243.243 ID - Ochs1980 ER - TY - JOUR AU - Bouma, G. AU - Burns, S. O. AU - Thrasher, A. J. PY - 2009 DA - 2009// TI - Wiskott-Aldrich syndrome: immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation JO - Immunobiology VL - 214 UR - https://doi.org/10.1016/j.imbio.2009.06.009 DO - 10.1016/j.imbio.2009.06.009 ID - Bouma2009 ER - TY - JOUR AU - Orange, J. S. AU - Stone, K. D. AU - Turvey, S. E. AU - Krzewski, K. PY - 2004 DA - 2004// TI - The Wiskott-Aldrich syndrome. CMLS JO - Cell Mol Life Sci VL - 61 UR - https://doi.org/10.1007/s00018-004-4086-z DO - 10.1007/s00018-004-4086-z ID - Orange2004 ER - TY - JOUR PY - 2013 DA - 2013// TI - World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects JO - JAMA VL - 310 UR - https://doi.org/10.1001/jama.2013.281053 DO - 10.1001/jama.2013.281053 ID - ref13 ER - TY - JOUR AU - Wang, K. AU - Li, M. AU - Hakonarson, H. PY - 2010 DA - 2010// TI - ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data JO - Nucleic Acids Res VL - 38 UR - https://doi.org/10.1093/nar/gkq603 DO - 10.1093/nar/gkq603 ID - Wang2010 ER - TY - STD TI - Glanzmann B, et al. A new tool for prioritization of sequence variants from whole exome sequencing data. Source Code Biol Med. 2016;11. ID - ref15 ER - TY - JOUR AU - Richards, S. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Ochs, H. D. PY - 2009 DA - 2009// TI - Mutations of the Wiskott-Aldrich syndrome protein affect protein expression and dictate the clinical phenotypes JO - Immunol Res VL - 44 UR - https://doi.org/10.1007/s12026-008-8084-3 DO - 10.1007/s12026-008-8084-3 ID - Ochs2009 ER - TY - STD TI - Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. (Oxford University Press, 2013). ID - ref18 ER - TY - JOUR AU - Patel, P. D. AU - Samanich, J. M. AU - Mitchell, W. B. AU - Manwani, D. PY - 2011 DA - 2011// TI - A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size JO - Pediatr Blood Cancer VL - 56 UR - https://doi.org/10.1002/pbc.22920 DO - 10.1002/pbc.22920 ID - Patel2011 ER -