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.
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| 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. |
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| Authors: | AmirKashani, Davoud1 (AUTHOR), Hosseini, Soudabeh2 (AUTHOR), Mojbafan, Marziyeh3 (AUTHOR), Sharifinejad, Niusha4 (AUTHOR), Bahrami, Sima5 (AUTHOR) bahrami.s@iums.ac.ir, Saleem, Suraiya (AUTHOR) ssaleem@wiley.com |
| Source: | Case Reports in Immunology. 6/28/2026, Vol. 2026, p1-4. 4p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 20906609 |
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| DOI: | 10.1155/crii/3883928 |