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 literatu...

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Bibliografische gegevens
Hoofdauteurs: Xiaolei Xie, Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Jiadi Wen, Hui Zhang, Peining Li
Formaat: Artikel
Taal:English
Gepubliceerd in: KeAi Communications Co., Ltd. 2022-06-01
Reeks:Global Medical Genetics
Onderwerpen:
Online toegang:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1743568