A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.
- DOI
- 10.1155/crii/3883928
- Published
- 2026
- Container
- Case reports in immunology
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1155/crii/3883928,
title = {A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.},
author = {AmirKashani D and Hosseini S and Mojbafan M and Sharifinejad N and Bahrami S},
year = {2026},
journal = {Case reports in immunology},
doi = {10.1155/crii/3883928},
url = {https://doi.org/10.1155/crii/3883928}
}RIS
TY - JOUR TI - A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1. AU - AmirKashani D AU - Hosseini S AU - Mojbafan M AU - Sharifinejad N AU - Bahrami S PY - 2026 JO - Case reports in immunology DO - 10.1155/crii/3883928 UR - https://doi.org/10.1155/crii/3883928 ER -
APA
D, A., S, H., M, M., N, S., & S, B. (2026). A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.. Case reports in immunology. https://doi.org/10.1155/crii/3883928
Source records
- pubmed · retrieved 2026-09-27T00:04:30.750Z