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Case #10552 - Thanatophoric dysplasia

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Malformations

• Deformations (41)
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Molecular

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Physiological

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• Systems (13)
• Tissues (9)
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• Tissular functions (23)
• Tissular processes (3)

Physiopathological pathways

• Auto-immunity (8)
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• Immunodeficiency (15)
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• Malformative pathway (61)
• Metabolic pathway (60)
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• Vascular pathway (8)

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• Involved in translocations (127)
• Malformation gene (24)
• Mutated in human diseases (523)
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• Proteic complexes (61)
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Videos

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