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  1. Article

    Open Access

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

    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 ...

    Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman in BMC Medical Genetics (2018)