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Article

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

American journal of medical genetics. Part A - 1 Mar 2018

Ruggeri Gaia, Timms Andrew E, Cheng Chi, Weiss Avery, Kollros Peter, Chapman Teresa, Tully Hannah, Mirzaa Ghayda M

Abstract excerpt

Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two...

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PMID: 29341397
DOI: 10.1002/ajmg.a.38592
PMCID: PMC5871351

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