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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.
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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  Data: 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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  Data: <searchLink fieldCode="JN" term="%22Case+Reports+in+Immunology%22">Case Reports in Immunology</searchLink>. 6/28/2026, Vol. 2026, p1-4. 4p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=194946969
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        Value: 10.1155/crii/3883928
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      – Code: eng
        Text: English
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        PageCount: 4
        StartPage: 1
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      – TitleFull: 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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            NameFull: AmirKashani, Davoud
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            NameFull: Hosseini, Soudabeh
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            NameFull: Mojbafan, Marziyeh
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            NameFull: Sharifinejad, Niusha
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            NameFull: Bahrami, Sima
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            NameFull: Saleem, Suraiya
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            – D: 28
              M: 06
              Text: 6/28/2026
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              Y: 2026
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              Value: 2026
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            – TitleFull: Case Reports in Immunology
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