Article
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
BMC medical genetics - 2 Mar 2018
Al-Jezawi Nesreen K, Al-Shamsi Aisha M, Suleiman Jehan, Ben-Salem Salma, John Anne, Vijayan Ranjit, Ali Bassam R, Al-Gazali Lihadh
Abstract excerpt
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 demonstrated that some CH cases are caused by mutations in L1CAM gene encoding the neural cell adhesion molecule L1....
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