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Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran
BACKGROUND: Pathogenic mutations in TRAPPC9 are associated with autosomal recessive Intellectual Disability (ID), a major public health issue that affects about 1–3% of children worldwide. METHOD: Clinical evaluation, magnetic resonance imaging, peripheral blood karyotype, Multiplex ligation‐depende...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683625/ https://www.ncbi.nlm.nih.gov/pubmed/33513295 http://dx.doi.org/10.1002/mgg3.1610 |