A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes. We identified a consanguineous family of Saudi origin with varying complex features including intellectual dis...

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Detalles Bibliográficos
Autores principales: Mohamoud, Hussein Sheikh, Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Childs, Kay, Vadgama, Nirmal, Almramhi, Mona Mohammad, Al-Aama, Jumana Yousuf, Goodbourn, Steve, Nasir, Jamal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794855/
https://www.ncbi.nlm.nih.gov/pubmed/29391579
http://dx.doi.org/10.1038/s41598-018-20658-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794855/
https://www.ncbi.nlm.nih.gov/pubmed/29391579
http://dx.doi.org/10.1038/s41598-018-20658-w

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