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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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| Published in: | Case Reports in Immunology |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1869391346004918272 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Case Reports in Immunology |
| description | |
| discipline_display | Allergology and Immunology |
| discipline_facet | Allergology and Immunology |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:97321 |
| institution | FRELIP |
| journal_source_facet | Case Reports in Immunology |
| last_indexed | 2026-06-30T03:35:12.778Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | 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 Allergology and Immunology General Allergology and Immunology |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Allergology and Immunology General Allergology and Immunology |
| subject_facet | Allergology and Immunology General Allergology and Immunology |
| 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 |
| title_alt | Una nueva mutación de MYO5A (c.3508C>T) en una niña de 27 meses con hipotonía y retraso del desarrollo: ampliando el espectro fenotípico del síndrome de Griscelli tipo 1 Une nouvelle mutation MYO5A (c.3508C>T) chez une fille de 27 mois avec hypotonie et retard de développement : élargissement du spectre phénotypique du syndrome de Griscelli de type 1 Uma Nova Mutação MYO5A (c.3508C>T) em uma Menina de 27 Meses com Hipotonia e Atraso no Desenvolvimento: Expandindo o Espectro Fenotípico da Síndrome de Griscelli Tipo 1 |
| title_auth | 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 |
| title_es_txt | Una nueva mutación de MYO5A (c.3508C>T) en una niña de 27 meses con hipotonía y retraso del desarrollo: ampliando el espectro fenotípico del síndrome de Griscelli tipo 1 |
| title_fr_txt | Une nouvelle mutation MYO5A (c.3508C>T) chez une fille de 27 mois avec hypotonie et retard de développement : élargissement du spectre phénotypique du syndrome de Griscelli de type 1 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_pt_txt | Uma Nova Mutação MYO5A (c.3508C>T) em uma Menina de 27 Meses com Hipotonia e Atraso no Desenvolvimento: Expandindo o Espectro Fenotípico da Síndrome de Griscelli Tipo 1 |
| title_short | 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 |
| title_sort | 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 |
| topic | Allergology and Immunology General Allergology and Immunology |
| url | https://www.hindawi.com/journals/crii/2026/3883928/ |