BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

We report the case of a 7‐year‐old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revea...

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Detalles Bibliográficos
Autores principales: Soblet, Julie, Dimov, Ivan, Graf von Kalckreuth, Clemens, Cano‐Chervel, Julie, Baijot, Simon, Pelc, Karin, Sottiaux, Martine, Vilain, Catheline, Smits, Guillaume, Deconinck, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765401/
https://www.ncbi.nlm.nih.gov/pubmed/28960836
http://dx.doi.org/10.1002/ajmg.a.38479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765401/
https://www.ncbi.nlm.nih.gov/pubmed/28960836
http://dx.doi.org/10.1002/ajmg.a.38479

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