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

By sjmartinez • July 23, 2024

Huang Y, Jay KL, Huang AY, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Jul 18:101218. doi: 10.1016/j.gim.2024.101218. Epub ahead of print. PMID: 39036895.

Tags: Cardiology/Epi, epigenetic, H3K4 methylation, microcephaly, neurodevelopmental disorder, Publications, RBBP5

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