title: A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.
authors.forename: Sheng-Li
authors.initials: SL
authors.lastname: Xue
authors.forename: Jin-Li
authors.initials: JL
authors.lastname: Li
authors.forename: Jing-Ying
authors.initials: JY
authors.lastname: Zou
authors.forename: Jian
authors.initials: J
authors.lastname: Su
authors.forename: Su-Ning
authors.initials: SN
authors.lastname: Chen
authors.forename: De-Pei
authors.initials: DP
authors.lastname: Wu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D000080984:Congenital Bone Marrow Failure Syndromes; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human
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