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...

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Detalles Bibliográficos
Autores principales: Yousefipour, Farideh, Mozhdehipanah, Hossein, Mahjoubi, Frouzandeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
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

Internet

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

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