NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have been identified in several sequencing projects; how...

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Vydáno v:Mol Syndromol
Hlavní autoři: Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Danielsson, Ingela, Odelberg-Johnsson, Per, Biskup, Saskia, Holz, Anja, Stefanova, Margarita
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2020
Témata:
Novel Insights from Clinical Practice
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6995945/
https://ncbi.nlm.nih.gov/pubmed/32021605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000504818
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