Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus
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DOI: 10.1186/s12881-018-0540-x
Abstract: BackgroundCongenital 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… read more here.
Keywords: heterozygous variants; multiple pdz; compound heterozygous; gene ... See more keywords