Notes in IS008 Genetics Case-Based Discussion #2

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Status	Last Update	Fields
Published	10/04/2024
Published	10/04/2024	What are the differences between homocystinuria and Marfan syndrome?
Published	10/04/2024	What testing approach would you pursue to confirm a suspected diagnosis of Marfan Syndrome?
Published	10/04/2024
Published	10/04/2024	What are the four stages of Rett Syndrome?
Published	10/04/2024	Which pedigree is most likely for the family of this Rett syndrome patient?
Published	10/04/2024	This question refers to the mother of the Rett syndrome patient.
Published	10/04/2024	What are the key features to notice about this clinical presentation?
Published	10/04/2024	What is the most likely diagnosis in this patient?
Published	10/04/2024	What are other disorders that the non-specific finding of muscle weakness could be attributed to, besides Duchenne? Why are these not a good fit for t…
Published	10/04/2024	This question refers to the patient with Duchenne:
Published	10/04/2024	This question refers to the patient with Duchenne: If a girl were to carry the disease allele, what would be her phenotype?
Published	10/04/2024	What's the distinction between Becker and Duchenne?
Published	10/04/2024
Published	10/04/2024
Published	10/04/2024
Published	10/04/2024
Published	10/04/2024	Why is a panel not the best for everyone? How is sequencing better?
Published	10/04/2024
Status	Last Update	Fields