11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.