Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Overview of attention for article published in Genetics in Medicine, July 2024

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twitter: 7 X users

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RT @FranMartinezGr: Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly #RareDisease…

Check out the most recent UDN publication! ⭐️Key takeaway: Functional analysis on two missense variants, p.(T232I) and p.(E296D), in #RBBP5 suggests partial loss-of-function, leading to brain size reduction and a milder microcephaly phenotype. https://…

RT @mfwangler: She started her PhD work the month of the COVID lockdown and had to learn while distancing. She was so dedicated and very co…

She started her PhD work the month of the COVID lockdown and had to learn while distancing. She was so dedicated and very collaborative and her work now speaks for itself! Some reading highlights from her thesis: https://t.co/JazrCL2JB1 https://t.co…

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