Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature

Background  Cytogenomic analyses have been used to detect pathogenic copy number variants. Patients with deletions at 6q26-q27 present variable clinical features. We reported clinical and cytogenomic findings of eight unrelated patients with a deletion of 6q26-q27. A systematic review of the literat...

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Detalles Bibliográficos
Autores principales: Xie, Xiaolei, Chai, Hongyan, DiAdamo, Autumn, Grommisch, Brittany, Wen, Jiadi, Zhang, Hui, Li, Peining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9192176/
https://www.ncbi.nlm.nih.gov/pubmed/35707784
http://dx.doi.org/10.1055/s-0042-1743568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9192176/
https://www.ncbi.nlm.nih.gov/pubmed/35707784
http://dx.doi.org/10.1055/s-0042-1743568

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