Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

BACKGROUND: Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH can be reduced if the condition is detected and treated early. Earlier reports...

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Detalles Bibliográficos
Autores principales: Al-Jezawi, Nesreen K., Al-Shamsi, Aisha M., Suleiman, Jehan, Ben-Salem, Salma, John, Anne, Vijayan, Ranjit, Ali, Bassam R., Al-Gazali, Lihadh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834892/
https://www.ncbi.nlm.nih.gov/pubmed/29499638
http://dx.doi.org/10.1186/s12881-018-0540-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834892/
https://www.ncbi.nlm.nih.gov/pubmed/29499638
http://dx.doi.org/10.1186/s12881-018-0540-x

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