Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference15 articles.
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1. An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia;European Journal of Human Genetics;2019-01-08
2. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis;Journal of Medical Genetics;2017-03-06
3. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles;Italian Journal of Pediatrics;2014-10-18
4. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects;European Journal of Medical Genetics;2014-02
5. A rare variation of hydranencephaly: case report;F1000Research;2014-01-30
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