A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
- DOI
- 10.1186/s12881-019-0859-y
- Published
- 2019 Jul 17
- Container
- BMC medical genetics
- Publisher
- Not recorded
- Open access
- yes
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limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
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Cite this work
BibTeX
@article{allodium:10.1186/s12881-019-0859-y,
title = {A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.},
author = {Siavrienė E and Petraitytė G and Mikštienė V and Rančelis T and Maldžienė Ž and Morkūnienė A and Byčkova J and Utkus A and Kučinskas V and Preikšaitienė E},
year = {2019},
journal = {BMC medical genetics},
doi = {10.1186/s12881-019-0859-y},
url = {https://doi.org/10.1186/s12881-019-0859-y}
}RIS
TY - JOUR TI - A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report. AU - Siavrienė E AU - Petraitytė G AU - Mikštienė V AU - Rančelis T AU - Maldžienė Ž AU - Morkūnienė A AU - Byčkova J AU - Utkus A AU - Kučinskas V AU - Preikšaitienė E PY - 2019 JO - BMC medical genetics DO - 10.1186/s12881-019-0859-y UR - https://doi.org/10.1186/s12881-019-0859-y ER -
APA
E, S., G, P., V, M., T, R., Ž, M., A, M., J, B., A, U., V, K., & E, P. (2019). A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.. BMC medical genetics. https://doi.org/10.1186/s12881-019-0859-y
Source records
- pubmed · retrieved 2026-09-26T02:18:50.875Z