Notes in IS004 Genetic Diagnosis

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Published	10/04/2024	If you suspect that a particular disease is caused by a mutation in a certain gene, what would be the fastest way to confirm the diagnosis?
Published	10/04/2024	What gene is mutated in thanatophoric dysplasia?
Published	10/04/2024	What are the characteristics/symptoms of thanatophoric dysplasia?
Published	10/04/2024	What is the prognosis for a patient with thanatophoric dysplasia?
Published	10/04/2024	Mutation in what gene causes opsismodysplasia?
Published	10/04/2024	What is the prognosis for a patient with opsismodysplasia?
Published	10/04/2024	What are the symptoms of opsismodysplasia?
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