Hyperinsulinism in an individual with an EP300 variant of
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39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting - Boycott - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
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Dr. Karla F. Leavens, MD, Philadelphia, PA, Pediatric Endocrinologist
Sarah E. Sheppard's research works The Children's Hospital of Philadelphia, PA (CHOP) and other places
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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