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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Bibliographic Details
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.
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
DOI:10.1155/crii/3883928