Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1

BACKGROUND: Autosomal recessive intellectual disability (ARID) is vastly heterogeneous. Truncating mutations of TRAPPC9 were reported in 8 ARID families. Autosomal recessive primary microcephaly (MCPH) represents another subgroup of ARID, itself very heterogeneous, where the size of the brain is ver...

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Detalles Bibliográficos
Autores principales: Duerinckx, Sarah, Meuwissen, Marije, Perazzolo, Camille, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081227/
https://www.ncbi.nlm.nih.gov/pubmed/29693325
http://dx.doi.org/10.1002/mgg3.400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081227/
https://www.ncbi.nlm.nih.gov/pubmed/29693325
http://dx.doi.org/10.1002/mgg3.400

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