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...
| Հիմնական հեղինակներ: | , , , , , , |
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| Ձևաչափ: | Հոդված |
| Լեզու: | English |
| Հրապարակվել է: |
KeAi Communications Co., Ltd.
2022-06-01
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| Շարք: | Global Medical Genetics |
| Խորագրեր: | |
| Առցանց հասանելիություն: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1743568 |