Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Blake Kim; Trider Carrie‐Lee; Hartshorne Timothy S.; Stratton Kasee K.

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Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

机译：与HALE等人的对应。与致病性CHD7 CHD7变体相关的非典型表型以及用于扩大电荷综合征临床诊断标准的提案

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《American journal of medical genetics, Part A》 |2016年第12期|共2页
作者
Blake Kim; Trider Carrie‐Lee; Hartshorne Timothy S.; Stratton Kasee K.;
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Department of PediatricsDalhousie UniversityNova Scotia Canada;

Department of PediatricsQueen's UniversityOntario Canada;

Department of PsychologyCentral Michigan UniversityMount Pleasant Michigan;

Department of Counseling Educational Psychology and FoundationsMississippi State;

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正文语种 eng
中图分类医学遗传学;
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1. Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria [J] . Hale Caitlin L., Niederriter Adrienne N., Green Glenn E., American journal of medical genetics, Part A . 2016,第12期

机译：回应与HALE等人的对应。与致病性CHD7 CHD7变体相关的非典型表型以及用于扩大电荷综合征临床诊断标准的提案
2. Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria [J] . Blake Kim, Trider Carrie‐Lee, Hartshorne Timothy S., American journal of medical genetics, Part A . 2016,第12期

机译：与HALE等人的对应。与致病性CHD7 CHD7变体相关的非典型表型以及用于扩大电荷综合征临床诊断标准的提案
3. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria [J] . Hale Caitlin L., Niederriter Adrienne N., Green Glenn E., American journal of medical genetics, Part A . 2016,第2期

机译：与致病性CHD7变体相关的非典型表型以及扩大电荷综合征临床诊断标准的提案
4. Atypical phenotypes associated with pathogenic CHD7variants and a proposal for broadening CHARGE syndrome clinical diagnosticcriteria [O] . CL Hale, AN Niederriter, GE Green, -1

机译：与致病性CHD7相关的非典型表型变异和扩大CHARGE综合征临床诊断的建议标准
5. Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome [O] . Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, 2018

机译：通过下一代测序发现CHD7基因的新型剪接变体的功能分析，证实了西班牙患者的致病性并用电荷综合征诊断他

Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

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