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Genetics & Metabolism Syndromes

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Gerard Hills

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Genetics & Metabolism Syndromes 作者：Gerard Hills Mind Map: Genetics & Metabolism Syndromes

Mind Map: Genetics & Metabolism Syndromes

1. RENAL

2. GU

3. GI

4. MUSC/SKELETAL

5. DERMATOLOGY

6. CARDIOVASCULAR

6.1. DiGeorge/Velocardiofacial Syndrome/ Shprintzen Syndrome/ 22q11 Deletion Syndorme

6.1.1. Features

6.1.1.1. CHD in 74% (TOF, IAA B, conotruncal defects), immune dysfunction.

6.1.2. Clinical Tests

6.1.3. Molecular Tests

6.1.4. Mechanism

6.1.5. Treatment

7. RESPIRATORY

8. NEURO

9. ENDOCRINOLOGY

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