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Interestingly, these clinical features as well as the observed cellular alterations are highly reminiscent of what is reported in Fanconi Anaemia supporting a unifying causal role of the variant in the disease. This case provides the first evidence that a kinetochore defect, previously associated with microcephaly, can be responsible for an inherited bone marrow failure syndrome, highlighting the unique pathological link between neurogenesis and haematopoiesis.<\/jats:p>","DOI":"10.1111\/bjh.18461","type":"journal-article","created":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T08:49:08Z","timestamp":1663318148000},"page":"739-743","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["De novo <scp><i>NUF2<\/i><\/scp> variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia"],"prefix":"10.1111","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1437-0427","authenticated-orcid":false,"given":"Yoann","family":"Vial","sequence":"first","affiliation":[{"name":"Assistance Publique des H\u00f4pitaux de Paris (AP\u2010HP), H\u00f4pital Robert\u2010Debr\u00e9, 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