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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Publicat a:Sci Rep
Autors principals: Mohamoud, Hussein Sheikh, Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Childs, Kay, Vadgama, Nirmal, Almramhi, Mona Mohammad, Al-Aama, Jumana Yousuf, Goodbourn, Steve, Nasir, Jamal
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5794855/
https://ncbi.nlm.nih.gov/pubmed/29391579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-20658-w
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