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Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON

The DONSON gene encodes the downstream neighbor of SON, a replisome component that stabilizes the replication fork during replication. A severe form of microcephalic dwarfism, microcephaly-micromelia syndrome (MIMIS), has been recently associated with DONSON biallelic loss of function. Affected fetu...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Abdelrahman, Hanadi A., John, Anne, Ali, Bassam R., Al-Gazali, Lihadh
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6528082/
https://ncbi.nlm.nih.gov/pubmed/31191207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000497337
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