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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Vydáno v:Mol Syndromol
Hlavní autoři: Abdelrahman, Hanadi A., John, Anne, Ali, Bassam R., Al-Gazali, Lihadh
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2019
Témata:
Novel Insights from Clinical Practice
On-line přístup: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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