Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect

Bipedalism, speech, and intellect are the most prominent traits that emerged in the evolution of Homo sapiens. Here, we describe a novel genetic cause of an “involution” phenotype in four patients, who are characterized by quadrupedal locomotion, intellectual impairment, the absence of speech, small...

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Detalles Bibliográficos
Autores principales: Grigorenko, Anastasia P., Protasova, Maria S., Lisenkova, Alexandra A., Reshetov, Denis A., Andreeva, Tatiana V., Garcias, Gilberto De Lima, Martino Roth, Maria Da Graça, Papassotiropoulos, Andreas, Rogaev, Evgeny I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834146/
https://www.ncbi.nlm.nih.gov/pubmed/35159210
http://dx.doi.org/10.3390/cells11030400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834146/
https://www.ncbi.nlm.nih.gov/pubmed/35159210
http://dx.doi.org/10.3390/cells11030400

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