A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

BACKGROUND: The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive forms of...

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Detalles Bibliográficos
Autores principales: Amin, Mutaz, Vignal, Cedric, Eltaraifee, Esraa, Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Babai, Arwa, Elbadi, Iman, Mustafa, Doua, Abubaker, Rayan, Mustafa, Mohamed, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644490/
https://www.ncbi.nlm.nih.gov/pubmed/36348459
http://dx.doi.org/10.1186/s12920-022-01354-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644490/
https://www.ncbi.nlm.nih.gov/pubmed/36348459
http://dx.doi.org/10.1186/s12920-022-01354-1

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