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Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

机译：遗传性的CHST11 / MIR3922缺失与一种新型隐性综合征相关，伴有骨骼畸形和恶性淋巴增生性疾病

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Stitziel Nathan; et al;
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1. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease [J] . Cassa Christopher A., Chopra Sameer S., Duzkale Hatice, Molecular Genetics & Genomic Medicine . 2015 ,第5期

机译：遗传性的CHST11 / MIR3922缺失与一种新型隐性综合征相关，其表现为骨骼畸形和恶性淋巴增生性疾病
2. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. [J] . van Steensel MA, Vreeburg M, Engelen J, American journal of medical genetics, Part A . 2008 ,第22期

机译：由于身材矮小，鱼鳞病，癫痫，智力低下，大脑皮质异位症和Dandy-Walker畸形的男孩的母亲遗传的8.41 Mb染色体带Xp22.3远端缺失而导致的连续基因综合征。
3. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy. [J] . Bisgaard AM, Kirchhoff M, Nielsen JE, Clinical Genetics: An International Journal of Genetics in Medicine . 2009 ,第2期

机译：染色体缺失揭示了一种隐性疾病：22q13缺失综合征和异色性白细胞营养不良。
4. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease [O] . Sameer S Chopra, Ignaty Leshchiner, Hatice Duzkale, 2015

机译：遗传性的CHST11 / MIR3922缺失与一种新型隐性综合征相关伴有骨骼畸形和恶性淋巴增生性疾病
5. Autoimmune Lymphoproliferative Syndrome (ALPS) in a Child from Consanguineous Parents: A Dominant or Recessive Disease? [O] . Mirjam Van, Der Burg, Ronald De Groot, 2015

机译：来自近亲父母的孩子的自身免疫性淋巴细胞增生综合征（aLps）：一种显性或隐性疾病？

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

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