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

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

Abstract 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...

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Bibliographic Details
Main Authors: Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R. Ali, Lihadh Al-Gazali
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Medical Genetics
Subjects:
Congenital hydrocephalus
Multiple PDZ
L1CAM
Compound heterozygous variants
Autosomal recessive
Online Access:http://link.springer.com/article/10.1186/s12881-018-0540-x

Internet

http://link.springer.com/article/10.1186/s12881-018-0540-x

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