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Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype

机译：9q21.3的缺失（包括NTRK2）与严重的表型有关

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《American journal of medical genetics, Part A》 |2015年第1期|共4页
作者
Hancarova Miroslava; Puchmajerova Alena; Drabova Jana; Karaskova Eliska; VIckova Marketa; Sedlacek Zdenek;
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正文语种 eng
中图分类医学遗传学;
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1. Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype [J] . Hancarova Miroslava, Puchmajerova Alena, Drabova Jana, American journal of medical genetics, Part A . 2015,第1期

机译：9q21.3的缺失（包括NTRK2）与严重的表型有关
2. Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy [J] . Mohammad M. Al-Qattan, Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, Case Reports in Genetics . 2020,第1期

机译：染色体16P13.3连续基因缺失综合征，包括SLX4，DNASE1，TRAP1和CREBBP基因作为相对温和的鲁比斯坦-Taybi综合征表型：沙特男孩的病例报告
3. Intragenic Deletion in bold>MACROD2/bold>: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations [J] . Lombardo Barbara, Esposito Daniela, Iossa Sandra, Cytogenetic and genome research . 2019,第1期

机译：在＆粗体> macrod2中的腺体缺失
4. PHENOTYPE PROFILING OF SINGLE GENE DELETION MUTANTS OF E. COLI USING BIOLOG TECHNOLOGY [C] . YUKAKO TOHSATO, HIROTADA MORI International Conference on Genome Informatics . 2008

机译：使用Biolog技术的大肠杆菌的单基因缺失突变体的表型分析
5. A Characterization of Orofacial Phenotypes Resulting from the Tissue Specific Deletion of Pbx Genes within the Cranial Neural Crest Cell Population or the Cephalic Epithelium of the Developing Murine Embryo [D] . Hart, James C. 2018

机译：颅面神经rest细胞群或发育中的鼠胚胎的头皮上皮细胞组织特异性缺失导致的口面表型表征。
6. Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 DNASE1 TRAP1 and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy [O] . Mohammad M. Al-Qattan, Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, 2020

机译：染色体16p13.3连续基因缺失综合征包括SLX4DNASE1TRAP1和CREBBP基因表现为相对轻度的鲁宾斯坦-泰比综合征表型：一个沙特男孩的病例报告
7. Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy [O] . Mohammad M. Al-Qattan, Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, 2020

机译：染色体16P13.3连续基因缺失综合征，包括SLX4，DNASE1，TRAP1和CREBBP基因作为相对温和的鲁比斯坦-Taybi综合征表型：沙特男孩的病例报告

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