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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Danielsson, Ingela, Odelberg-Johnsson, Per, Biskup, Saskia, Holz, Anja, Stefanova, Margarita
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
Matèries:
Novel Insights from Clinical Practice
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars