A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum.
- DOI
- 10.1097/mcd.0000000000000579
- Published
- 2026 Aug 27
- Container
- Clinical dysmorphology
- Publisher
- Not recorded
- Open access
- no
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Cite this work
BibTeX
@article{allodium:10.1097/mcd.0000000000000579,
title = {A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum.},
author = {Aparicio-Sánchez JL and Rodríguez-Lanza MA and Sáenz-Acuña H and Orts-Martínez E and Garzón-Gómez MB},
year = {2026},
journal = {Clinical dysmorphology},
doi = {10.1097/mcd.0000000000000579},
url = {https://doi.org/10.1097/mcd.0000000000000579}
}RIS
TY - JOUR TI - A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum. AU - Aparicio-Sánchez JL AU - Rodríguez-Lanza MA AU - Sáenz-Acuña H AU - Orts-Martínez E AU - Garzón-Gómez MB PY - 2026 JO - Clinical dysmorphology DO - 10.1097/mcd.0000000000000579 UR - https://doi.org/10.1097/mcd.0000000000000579 ER -
APA
JL, A., MA, R., H, S., E, O., & MB, G. (2026). A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum.. Clinical dysmorphology. https://doi.org/10.1097/mcd.0000000000000579
Source records
- pubmed · retrieved 2026-09-26T01:06:47.181Z
- europe-pmc · retrieved 2026-09-26T01:06:47.187Z