Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
- DOI
- 10.1002/ajmg.a.61147
- Published
- 2019 Jul
- Container
- American journal of medical genetics. Part A
- Publisher
- Not recorded
- Open access
- unknown
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limited evidence Score 43/100 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:10.1002/ajmg.a.61147,
title = {Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.},
author = {Ghesh L and Vincent M and Delemazure AS and Boyer J and Corre P and Perez F and Geneviève D and Laplanche JL and Collet C and Isidor B},
year = {2019},
journal = {American journal of medical genetics. Part A},
doi = {10.1002/ajmg.a.61147},
url = {https://doi.org/10.1002/ajmg.a.61147}
}RIS
TY - JOUR TI - Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. AU - Ghesh L AU - Vincent M AU - Delemazure AS AU - Boyer J AU - Corre P AU - Perez F AU - Geneviève D AU - Laplanche JL AU - Collet C AU - Isidor B PY - 2019 JO - American journal of medical genetics. Part A DO - 10.1002/ajmg.a.61147 UR - https://doi.org/10.1002/ajmg.a.61147 ER -
APA
L, G., M, V., AS, D., J, B., P, C., F, P., D, G., JL, L., C, C., & B, I. (2019). Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.61147
Source records
- pubmed · retrieved 2026-11-10T14:21:14.081Z