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Amedeo Smart

Independent Medical Education


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Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, et al. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet 2023 Jun 14:jmg-2022-109127. doi: 10.1136/jmg-2022-109127.
PMID: 37316189


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