Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
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Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19.
Genet Med. 2024.
PMID: 39036895
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